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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs80357249

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:43093057 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRCA1 : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

None
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 17 NC_000017.11:g.43093057T>A
GRCh38.p14 chr 17 NC_000017.11:g.43093057T>C
GRCh38.p14 chr 17 NC_000017.11:g.43093057T>G
GRCh37.p13 chr 17 NC_000017.10:g.41245074T>A
GRCh37.p13 chr 17 NC_000017.10:g.41245074T>C
GRCh37.p13 chr 17 NC_000017.10:g.41245074T>G
BRCA1 RefSeqGene (LRG_292) NG_005905.2:g.124927A>T
BRCA1 RefSeqGene (LRG_292) NG_005905.2:g.124927A>G
BRCA1 RefSeqGene (LRG_292) NG_005905.2:g.124927A>C
Gene: BRCA1, BRCA1 DNA repair associated (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRCA1 transcript variant 4 NM_007298.3:c.787+1687A>T N/A Intron Variant
BRCA1 transcript variant 5 NM_007299.4:c.787+1687A>T N/A Intron Variant
BRCA1 transcript variant 3 NM_007297.4:c.2333A>T D [GAC] > V [GTC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 3 NP_009228.2:p.Asp778Val D (Asp) > V (Val) Missense Variant
BRCA1 transcript variant 3 NM_007297.4:c.2333A>G D [GAC] > G [GGC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 3 NP_009228.2:p.Asp778Gly D (Asp) > G (Gly) Missense Variant
BRCA1 transcript variant 3 NM_007297.4:c.2333A>C D [GAC] > A [GCC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 3 NP_009228.2:p.Asp778Ala D (Asp) > A (Ala) Missense Variant
BRCA1 transcript variant 2 NM_007300.4:c.2474A>T D [GAC] > V [GTC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 2 NP_009231.2:p.Asp825Val D (Asp) > V (Val) Missense Variant
BRCA1 transcript variant 2 NM_007300.4:c.2474A>G D [GAC] > G [GGC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 2 NP_009231.2:p.Asp825Gly D (Asp) > G (Gly) Missense Variant
BRCA1 transcript variant 2 NM_007300.4:c.2474A>C D [GAC] > A [GCC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 2 NP_009231.2:p.Asp825Ala D (Asp) > A (Ala) Missense Variant
BRCA1 transcript variant 1 NM_007294.4:c.2474A>T D [GAC] > V [GTC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 1 NP_009225.1:p.Asp825Val D (Asp) > V (Val) Missense Variant
BRCA1 transcript variant 1 NM_007294.4:c.2474A>G D [GAC] > G [GGC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 1 NP_009225.1:p.Asp825Gly D (Asp) > G (Gly) Missense Variant
BRCA1 transcript variant 1 NM_007294.4:c.2474A>C D [GAC] > A [GCC] Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 1 NP_009225.1:p.Asp825Ala D (Asp) > A (Ala) Missense Variant
BRCA1 transcript variant 6 NR_027676.2:n.2651A>T N/A Non Coding Transcript Variant
BRCA1 transcript variant 6 NR_027676.2:n.2651A>G N/A Non Coding Transcript Variant
BRCA1 transcript variant 6 NR_027676.2:n.2651A>C N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 69243 )
ClinVar Accession Disease Names Clinical Significance
RCV000111870.3 Breast-ovarian cancer, familial, susceptibility to, 1 Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A C G
GRCh38.p14 chr 17 NC_000017.11:g.43093057= NC_000017.11:g.43093057T>A NC_000017.11:g.43093057T>C NC_000017.11:g.43093057T>G
GRCh37.p13 chr 17 NC_000017.10:g.41245074= NC_000017.10:g.41245074T>A NC_000017.10:g.41245074T>C NC_000017.10:g.41245074T>G
BRCA1 RefSeqGene (LRG_292) NG_005905.2:g.124927= NG_005905.2:g.124927A>T NG_005905.2:g.124927A>G NG_005905.2:g.124927A>C
BRCA1 transcript variant 2 NM_007300.4:c.2474= NM_007300.4:c.2474A>T NM_007300.4:c.2474A>G NM_007300.4:c.2474A>C
BRCA1 transcript variant 2 NM_007300.3:c.2474= NM_007300.3:c.2474A>T NM_007300.3:c.2474A>G NM_007300.3:c.2474A>C
BRCA1 transcript variant 1 NM_007294.4:c.2474= NM_007294.4:c.2474A>T NM_007294.4:c.2474A>G NM_007294.4:c.2474A>C
BRCA1 transcript variant 1 NM_007294.3:c.2474= NM_007294.3:c.2474A>T NM_007294.3:c.2474A>G NM_007294.3:c.2474A>C
BRCA1 transcript variant 3 NM_007297.4:c.2333= NM_007297.4:c.2333A>T NM_007297.4:c.2333A>G NM_007297.4:c.2333A>C
BRCA1 transcript variant 3 NM_007297.3:c.2333= NM_007297.3:c.2333A>T NM_007297.3:c.2333A>G NM_007297.3:c.2333A>C
BRCA1 transcript variant 14 NM_001407593.1:c.2474= NM_001407593.1:c.2474A>T NM_001407593.1:c.2474A>G NM_001407593.1:c.2474A>C
BRCA1 transcript variant 33 NM_001407621.1:c.2474= NM_001407621.1:c.2474A>T NM_001407621.1:c.2474A>G NM_001407621.1:c.2474A>C
BRCA1 transcript variant 22 NM_001407610.1:c.2471= NM_001407610.1:c.2471A>T NM_001407610.1:c.2471A>G NM_001407610.1:c.2471A>C
BRCA1 transcript variant 46 NM_001407634.1:c.2471= NM_001407634.1:c.2471A>T NM_001407634.1:c.2471A>G NM_001407634.1:c.2471A>C
BRCA1 transcript variant 105 NM_001407697.1:c.2333= NM_001407697.1:c.2333A>T NM_001407697.1:c.2333A>G NM_001407697.1:c.2333A>C
BRCA1 transcript variant 124 NM_001407741.1:c.2330= NM_001407741.1:c.2330A>T NM_001407741.1:c.2330A>G NM_001407741.1:c.2330A>C
BRCA1 transcript variant 107 NM_001407724.1:c.2333= NM_001407724.1:c.2333A>T NM_001407724.1:c.2333A>G NM_001407724.1:c.2333A>C
BRCA1 transcript variant 136 NM_001407838.1:c.2330= NM_001407838.1:c.2330A>T NM_001407838.1:c.2330A>G NM_001407838.1:c.2330A>C
BRCA1 transcript variant 9 NM_001407583.1:c.2474= NM_001407583.1:c.2474A>T NM_001407583.1:c.2474A>G NM_001407583.1:c.2474A>C
BRCA1 transcript variant 13 NM_001407591.1:c.2471= NM_001407591.1:c.2471A>T NM_001407591.1:c.2471A>G NM_001407591.1:c.2471A>C
BRCA1 transcript variant 15 NM_001407594.1:c.2474= NM_001407594.1:c.2474A>T NM_001407594.1:c.2474A>G NM_001407594.1:c.2474A>C
BRCA1 transcript variant 37 NM_001407625.1:c.2474= NM_001407625.1:c.2474A>T NM_001407625.1:c.2474A>G NM_001407625.1:c.2474A>C
BRCA1 transcript variant 31 NM_001407619.1:c.2474= NM_001407619.1:c.2474A>T NM_001407619.1:c.2474A>G NM_001407619.1:c.2474A>C
BRCA1 transcript variant 27 NM_001407615.1:c.2471= NM_001407615.1:c.2471A>T NM_001407615.1:c.2471A>G NM_001407615.1:c.2471A>C
BRCA1 transcript variant 54 NM_001407642.1:c.2474= NM_001407642.1:c.2474A>T NM_001407642.1:c.2474A>G NM_001407642.1:c.2474A>C
BRCA1 transcript variant 45 NM_001407633.1:c.2471= NM_001407633.1:c.2471A>T NM_001407633.1:c.2471A>G NM_001407633.1:c.2471A>C
BRCA1 transcript variant 42 NM_001407630.1:c.2471= NM_001407630.1:c.2471A>T NM_001407630.1:c.2471A>G NM_001407630.1:c.2471A>C
BRCA1 transcript variant 21 NM_001407605.1:c.2474= NM_001407605.1:c.2474A>T NM_001407605.1:c.2474A>G NM_001407605.1:c.2474A>C
BRCA1 transcript variant 35 NM_001407623.1:c.2474= NM_001407623.1:c.2474A>T NM_001407623.1:c.2474A>G NM_001407623.1:c.2474A>C
BRCA1 transcript variant 162 NM_001407882.1:c.2264= NM_001407882.1:c.2264A>T NM_001407882.1:c.2264A>G NM_001407882.1:c.2264A>C
BRCA1 transcript variant 179 NM_001407908.1:c.2264= NM_001407908.1:c.2264A>T NM_001407908.1:c.2264A>G NM_001407908.1:c.2264A>C
BRCA1 transcript variant 171 NM_001407897.1:c.2261= NM_001407897.1:c.2261A>T NM_001407897.1:c.2261A>G NM_001407897.1:c.2261A>C
BRCA1 transcript variant 64 NM_001407655.1:c.2396= NM_001407655.1:c.2396A>T NM_001407655.1:c.2396A>G NM_001407655.1:c.2396A>C
BRCA1 transcript variant 175 NM_001407902.1:c.2264= NM_001407902.1:c.2264A>T NM_001407902.1:c.2264A>G NM_001407902.1:c.2264A>C
BRCA1 transcript variant 78 NM_001407669.1:c.2351= NM_001407669.1:c.2351A>T NM_001407669.1:c.2351A>G NM_001407669.1:c.2351A>C
BRCA1 transcript variant 86 NM_001407677.1:c.2351= NM_001407677.1:c.2351A>T NM_001407677.1:c.2351A>G NM_001407677.1:c.2351A>C
BRCA1 transcript variant 83 NM_001407674.1:c.2351= NM_001407674.1:c.2351A>T NM_001407674.1:c.2351A>G NM_001407674.1:c.2351A>C
BRCA1 transcript variant 82 NM_001407673.1:c.2348= NM_001407673.1:c.2348A>T NM_001407673.1:c.2348A>G NM_001407673.1:c.2348A>C
BRCA1 transcript variant 96 NM_001407687.1:c.2348= NM_001407687.1:c.2348A>T NM_001407687.1:c.2348A>G NM_001407687.1:c.2348A>C
BRCA1 transcript variant 93 NM_001407684.1:c.2474= NM_001407684.1:c.2474A>T NM_001407684.1:c.2474A>G NM_001407684.1:c.2474A>C
BRCA1 transcript variant 92 NM_001407683.1:c.2351= NM_001407683.1:c.2351A>T NM_001407683.1:c.2351A>G NM_001407683.1:c.2351A>C
BRCA1 transcript variant 99 NM_001407690.1:c.2348= NM_001407690.1:c.2348A>T NM_001407690.1:c.2348A>G NM_001407690.1:c.2348A>C
BRCA1 transcript variant 214 NM_001407947.1:c.2141= NM_001407947.1:c.2141A>T NM_001407947.1:c.2141A>G NM_001407947.1:c.2141A>C
BRCA1 transcript variant 223 NM_001407956.1:c.2138= NM_001407956.1:c.2138A>T NM_001407956.1:c.2138A>G NM_001407956.1:c.2138A>C
BRCA1 transcript variant 204 NM_001407937.1:c.2351= NM_001407937.1:c.2351A>T NM_001407937.1:c.2351A>G NM_001407937.1:c.2351A>C
BRCA1 transcript variant 206 NM_001407939.1:c.2351= NM_001407939.1:c.2351A>T NM_001407939.1:c.2351A>G NM_001407939.1:c.2351A>C
BRCA1 transcript variant 208 NM_001407941.1:c.2348= NM_001407941.1:c.2348A>T NM_001407941.1:c.2348A>G NM_001407941.1:c.2348A>C
BRCA1 transcript variant 110 NM_001407727.1:c.2333= NM_001407727.1:c.2333A>T NM_001407727.1:c.2333A>G NM_001407727.1:c.2333A>C
BRCA1 transcript variant 186 NM_001407919.1:c.2351= NM_001407919.1:c.2351A>T NM_001407919.1:c.2351A>G NM_001407919.1:c.2351A>C
BRCA1 transcript variant 104 NM_001407696.1:c.2333= NM_001407696.1:c.2333A>T NM_001407696.1:c.2333A>G NM_001407696.1:c.2333A>C
BRCA1 transcript variant 184 NM_001407917.1:c.2261= NM_001407917.1:c.2261A>T NM_001407917.1:c.2261A>G NM_001407917.1:c.2261A>C
BRCA1 transcript variant 16 NM_001407596.1:c.2474= NM_001407596.1:c.2474A>T NM_001407596.1:c.2474A>G NM_001407596.1:c.2474A>C
BRCA1 transcript variant 8 NM_001407582.1:c.2474= NM_001407582.1:c.2474A>T NM_001407582.1:c.2474A>G NM_001407582.1:c.2474A>C
BRCA1 transcript variant 143 NM_001407846.1:c.2330= NM_001407846.1:c.2330A>T NM_001407846.1:c.2330A>G NM_001407846.1:c.2330A>C
BRCA1 transcript variant 108 NM_001407725.1:c.2333= NM_001407725.1:c.2333A>T NM_001407725.1:c.2333A>G NM_001407725.1:c.2333A>C
BRCA1 transcript variant 123 NM_001407740.1:c.2330= NM_001407740.1:c.2330A>T NM_001407740.1:c.2330A>G NM_001407740.1:c.2330A>C
BRCA1 transcript variant 122 NM_001407739.1:c.2333= NM_001407739.1:c.2333A>T NM_001407739.1:c.2333A>G NM_001407739.1:c.2333A>C
BRCA1 transcript variant 102 NM_001407694.1:c.2333= NM_001407694.1:c.2333A>T NM_001407694.1:c.2333A>G NM_001407694.1:c.2333A>C
BRCA1 transcript variant 103 NM_001407695.1:c.2333= NM_001407695.1:c.2333A>T NM_001407695.1:c.2333A>G NM_001407695.1:c.2333A>C
BRCA1 transcript variant 144 NM_001407847.1:c.2330= NM_001407847.1:c.2330A>T NM_001407847.1:c.2330A>G NM_001407847.1:c.2330A>C
BRCA1 transcript variant 116 NM_001407733.1:c.2333= NM_001407733.1:c.2333A>T NM_001407733.1:c.2333A>G NM_001407733.1:c.2333A>C
BRCA1 transcript variant 113 NM_001407730.1:c.2333= NM_001407730.1:c.2333A>T NM_001407730.1:c.2333A>G NM_001407730.1:c.2333A>C
BRCA1 transcript variant 140 NM_001407843.1:c.2330= NM_001407843.1:c.2330A>T NM_001407843.1:c.2330A>G NM_001407843.1:c.2330A>C
BRCA1 transcript variant 135 NM_001407752.1:c.2333= NM_001407752.1:c.2333A>T NM_001407752.1:c.2333A>G NM_001407752.1:c.2333A>C
BRCA1 transcript variant 131 NM_001407748.1:c.2330= NM_001407748.1:c.2330A>T NM_001407748.1:c.2330A>G NM_001407748.1:c.2330A>C
BRCA1 transcript variant 117 NM_001407734.1:c.2333= NM_001407734.1:c.2333A>T NM_001407734.1:c.2333A>G NM_001407734.1:c.2333A>C
BRCA1 transcript variant 114 NM_001407731.1:c.2333= NM_001407731.1:c.2333A>T NM_001407731.1:c.2333A>G NM_001407731.1:c.2333A>C
BRCA1 transcript variant 147 NM_001407850.1:c.2333= NM_001407850.1:c.2333A>T NM_001407850.1:c.2333A>G NM_001407850.1:c.2333A>C
BRCA1 transcript variant 132 NM_001407749.1:c.2330= NM_001407749.1:c.2330A>T NM_001407749.1:c.2330A>G NM_001407749.1:c.2330A>C
BRCA1 transcript variant 139 NM_001407842.1:c.2330= NM_001407842.1:c.2330A>T NM_001407842.1:c.2330A>G NM_001407842.1:c.2330A>C
BRCA1 transcript variant 17 NM_001407597.1:c.2474= NM_001407597.1:c.2474A>T NM_001407597.1:c.2474A>G NM_001407597.1:c.2474A>C
BRCA1 transcript variant 167 NM_001407889.1:c.2264= NM_001407889.1:c.2264A>T NM_001407889.1:c.2264A>G NM_001407889.1:c.2264A>C
BRCA1 transcript variant 32 NM_001407620.1:c.2474= NM_001407620.1:c.2474A>T NM_001407620.1:c.2474A>G NM_001407620.1:c.2474A>C
BRCA1 transcript variant 24 NM_001407612.1:c.2471= NM_001407612.1:c.2471A>T NM_001407612.1:c.2471A>G NM_001407612.1:c.2471A>C
BRCA1 transcript variant 51 NM_001407639.1:c.2474= NM_001407639.1:c.2474A>T NM_001407639.1:c.2474A>G NM_001407639.1:c.2474A>C
BRCA1 transcript variant 48 NM_001407636.1:c.2471= NM_001407636.1:c.2471A>T NM_001407636.1:c.2471A>G NM_001407636.1:c.2471A>C
BRCA1 transcript variant 41 NM_001407629.1:c.2471= NM_001407629.1:c.2471A>T NM_001407629.1:c.2471A>G NM_001407629.1:c.2471A>C
BRCA1 transcript variant 174 NM_001407900.1:c.2264= NM_001407900.1:c.2264A>T NM_001407900.1:c.2264A>G NM_001407900.1:c.2264A>C
BRCA1 transcript variant 138 NM_001407841.1:c.2330= NM_001407841.1:c.2330A>T NM_001407841.1:c.2330A>G NM_001407841.1:c.2330A>C
BRCA1 transcript variant 160 NM_001407879.1:c.2264= NM_001407879.1:c.2264A>T NM_001407879.1:c.2264A>G NM_001407879.1:c.2264A>C
BRCA1 transcript variant 7 NM_001407581.1:c.2474= NM_001407581.1:c.2474A>T NM_001407581.1:c.2474A>G NM_001407581.1:c.2474A>C
BRCA1 transcript variant 178 NM_001407907.1:c.2264= NM_001407907.1:c.2264A>T NM_001407907.1:c.2264A>G NM_001407907.1:c.2264A>C
BRCA1 transcript variant 6 NM_001407571.1:c.2261= NM_001407571.1:c.2261A>T NM_001407571.1:c.2261A>G NM_001407571.1:c.2261A>C
BRCA1 transcript variant 134 NM_001407751.1:c.2333= NM_001407751.1:c.2333A>T NM_001407751.1:c.2333A>G NM_001407751.1:c.2333A>C
BRCA1 transcript variant 12 NM_001407590.1:c.2471= NM_001407590.1:c.2471A>T NM_001407590.1:c.2471A>G NM_001407590.1:c.2471A>C
BRCA1 transcript variant 109 NM_001407726.1:c.2333= NM_001407726.1:c.2333A>T NM_001407726.1:c.2333A>G NM_001407726.1:c.2333A>C
BRCA1 transcript variant 11 NM_001407587.1:c.2471= NM_001407587.1:c.2471A>T NM_001407587.1:c.2471A>G NM_001407587.1:c.2471A>C
BRCA1 transcript variant 10 NM_001407585.1:c.2474= NM_001407585.1:c.2474A>T NM_001407585.1:c.2474A>G NM_001407585.1:c.2474A>C
BRCA1 transcript variant 209 NM_001407942.1:c.2333= NM_001407942.1:c.2333A>T NM_001407942.1:c.2333A>G NM_001407942.1:c.2333A>C
BRCA1 transcript variant 150 NM_001407853.1:c.2261= NM_001407853.1:c.2261A>T NM_001407853.1:c.2261A>G NM_001407853.1:c.2261A>C
BRCA1 transcript variant 211 NM_001407944.1:c.2333= NM_001407944.1:c.2333A>T NM_001407944.1:c.2333A>G NM_001407944.1:c.2333A>C
BRCA1 transcript variant 210 NM_001407943.1:c.2330= NM_001407943.1:c.2330A>T NM_001407943.1:c.2330A>G NM_001407943.1:c.2330A>C
BRCA1 transcript variant 187 NM_001407920.1:c.2210= NM_001407920.1:c.2210A>T NM_001407920.1:c.2210A>G NM_001407920.1:c.2210A>C
BRCA1 transcript variant 153 NM_001407859.1:c.2474= NM_001407859.1:c.2474A>T NM_001407859.1:c.2474A>G NM_001407859.1:c.2474A>C
BRCA1 transcript variant 129 NM_001407746.1:c.2330= NM_001407746.1:c.2330A>T NM_001407746.1:c.2330A>G NM_001407746.1:c.2330A>C
BRCA1 transcript variant 36 NM_001407624.1:c.2474= NM_001407624.1:c.2474A>T NM_001407624.1:c.2474A>G NM_001407624.1:c.2474A>C
BRCA1 transcript variant 28 NM_001407616.1:c.2474= NM_001407616.1:c.2474A>T NM_001407616.1:c.2474A>G NM_001407616.1:c.2474A>C
BRCA1 transcript variant 23 NM_001407611.1:c.2471= NM_001407611.1:c.2471A>T NM_001407611.1:c.2471A>G NM_001407611.1:c.2471A>C
BRCA1 transcript variant 190 NM_001407923.1:c.2210= NM_001407923.1:c.2210A>T NM_001407923.1:c.2210A>G NM_001407923.1:c.2210A>C
BRCA1 transcript variant 53 NM_001407641.1:c.2474= NM_001407641.1:c.2474A>T NM_001407641.1:c.2474A>G NM_001407641.1:c.2474A>C
BRCA1 transcript variant 49 NM_001407637.1:c.2471= NM_001407637.1:c.2471A>T NM_001407637.1:c.2471A>G NM_001407637.1:c.2471A>C
BRCA1 transcript variant 40 NM_001407628.1:c.2471= NM_001407628.1:c.2471A>T NM_001407628.1:c.2471A>G NM_001407628.1:c.2471A>C
BRCA1 transcript variant 18 NM_001407598.1:c.2474= NM_001407598.1:c.2474A>T NM_001407598.1:c.2474A>G NM_001407598.1:c.2474A>C
BRCA1 transcript variant 200 NM_001407933.1:c.2210= NM_001407933.1:c.2210A>T NM_001407933.1:c.2210A>G NM_001407933.1:c.2210A>C
BRCA1 transcript variant 194 NM_001407927.1:c.2210= NM_001407927.1:c.2210A>T NM_001407927.1:c.2210A>G NM_001407927.1:c.2210A>C
BRCA1 transcript variant 56 NM_001407645.1:c.2471= NM_001407645.1:c.2471A>T NM_001407645.1:c.2471A>G NM_001407645.1:c.2471A>C
BRCA1 transcript variant 38 NM_001407626.1:c.2474= NM_001407626.1:c.2474A>T NM_001407626.1:c.2474A>G NM_001407626.1:c.2474A>C
BRCA1 transcript variant 29 NM_001407617.1:c.2474= NM_001407617.1:c.2474A>T NM_001407617.1:c.2474A>G NM_001407617.1:c.2474A>C
BRCA1 transcript variant 26 NM_001407614.1:c.2471= NM_001407614.1:c.2471A>T NM_001407614.1:c.2471A>G NM_001407614.1:c.2471A>C
BRCA1 transcript variant 197 NM_001407930.1:c.2207= NM_001407930.1:c.2207A>T NM_001407930.1:c.2207A>G NM_001407930.1:c.2207A>C
BRCA1 transcript variant 188 NM_001407921.1:c.2210= NM_001407921.1:c.2210A>T NM_001407921.1:c.2210A>G NM_001407921.1:c.2210A>C
BRCA1 transcript variant 201 NM_001407934.1:c.2207= NM_001407934.1:c.2207A>T NM_001407934.1:c.2207A>G NM_001407934.1:c.2207A>C
BRCA1 transcript variant 57 NM_001407646.1:c.2465= NM_001407646.1:c.2465A>T NM_001407646.1:c.2465A>G NM_001407646.1:c.2465A>C
BRCA1 transcript variant 52 NM_001407640.1:c.2474= NM_001407640.1:c.2474A>T NM_001407640.1:c.2474A>G NM_001407640.1:c.2474A>C
BRCA1 transcript variant 47 NM_001407635.1:c.2471= NM_001407635.1:c.2471A>T NM_001407635.1:c.2471A>G NM_001407635.1:c.2471A>C
BRCA1 transcript variant 39 NM_001407627.1:c.2471= NM_001407627.1:c.2471A>T NM_001407627.1:c.2471A>G NM_001407627.1:c.2471A>C
BRCA1 transcript variant 19 NM_001407602.1:c.2474= NM_001407602.1:c.2474A>T NM_001407602.1:c.2474A>G NM_001407602.1:c.2474A>C
BRCA1 transcript variant 55 NM_001407644.1:c.2471= NM_001407644.1:c.2471A>T NM_001407644.1:c.2471A>G NM_001407644.1:c.2471A>C
BRCA1 transcript variant 34 NM_001407622.1:c.2474= NM_001407622.1:c.2474A>T NM_001407622.1:c.2474A>G NM_001407622.1:c.2474A>C
BRCA1 transcript variant 50 NM_001407638.1:c.2471= NM_001407638.1:c.2471A>T NM_001407638.1:c.2471A>G NM_001407638.1:c.2471A>C
BRCA1 transcript variant 43 NM_001407631.1:c.2471= NM_001407631.1:c.2471A>T NM_001407631.1:c.2471A>G NM_001407631.1:c.2471A>C
BRCA1 transcript variant 20 NM_001407603.1:c.2474= NM_001407603.1:c.2474A>T NM_001407603.1:c.2474A>G NM_001407603.1:c.2474A>C
BRCA1 transcript variant 58 NM_001407647.1:c.2465= NM_001407647.1:c.2465A>T NM_001407647.1:c.2465A>G NM_001407647.1:c.2465A>C
BRCA1 transcript variant 163 NM_001407884.1:c.2264= NM_001407884.1:c.2264A>T NM_001407884.1:c.2264A>G NM_001407884.1:c.2264A>C
BRCA1 transcript variant 30 NM_001407618.1:c.2474= NM_001407618.1:c.2474A>T NM_001407618.1:c.2474A>G NM_001407618.1:c.2474A>C
BRCA1 transcript variant 25 NM_001407613.1:c.2471= NM_001407613.1:c.2471A>T NM_001407613.1:c.2471A>G NM_001407613.1:c.2471A>C
BRCA1 transcript variant 181 NM_001407910.1:c.2264= NM_001407910.1:c.2264A>T NM_001407910.1:c.2264A>G NM_001407910.1:c.2264A>C
BRCA1 transcript variant 176 NM_001407904.1:c.2264= NM_001407904.1:c.2264A>T NM_001407904.1:c.2264A>G NM_001407904.1:c.2264A>C
BRCA1 transcript variant 169 NM_001407895.1:c.2261= NM_001407895.1:c.2261A>T NM_001407895.1:c.2261A>G NM_001407895.1:c.2261A>C
BRCA1 transcript variant 44 NM_001407632.1:c.2471= NM_001407632.1:c.2471A>T NM_001407632.1:c.2471A>G NM_001407632.1:c.2471A>C
BRCA1 transcript variant 183 NM_001407916.1:c.2261= NM_001407916.1:c.2261A>T NM_001407916.1:c.2261A>G NM_001407916.1:c.2261A>C
BRCA1 transcript variant 182 NM_001407915.1:c.2261= NM_001407915.1:c.2261A>T NM_001407915.1:c.2261A>G NM_001407915.1:c.2261A>C
BRCA1 transcript variant 166 NM_001407887.1:c.2264= NM_001407887.1:c.2264A>T NM_001407887.1:c.2264A>G NM_001407887.1:c.2264A>C
BRCA1 transcript variant 221 NM_001407954.1:c.2138= NM_001407954.1:c.2138A>T NM_001407954.1:c.2138A>G NM_001407954.1:c.2138A>C
BRCA1 transcript variant 180 NM_001407909.1:c.2264= NM_001407909.1:c.2264A>T NM_001407909.1:c.2264A>G NM_001407909.1:c.2264A>C
BRCA1 transcript variant 177 NM_001407906.1:c.2264= NM_001407906.1:c.2264A>T NM_001407906.1:c.2264A>G NM_001407906.1:c.2264A>C
BRCA1 transcript variant 168 NM_001407894.1:c.2261= NM_001407894.1:c.2261A>T NM_001407894.1:c.2261A>G NM_001407894.1:c.2261A>C
BRCA1 transcript variant 185 NM_001407918.1:c.2261= NM_001407918.1:c.2261A>T NM_001407918.1:c.2261A>G NM_001407918.1:c.2261A>C
BRCA1 transcript variant 75 NM_001407666.1:c.2351= NM_001407666.1:c.2351A>T NM_001407666.1:c.2351A>G NM_001407666.1:c.2351A>C
BRCA1 transcript variant 170 NM_001407896.1:c.2261= NM_001407896.1:c.2261A>T NM_001407896.1:c.2261A>G NM_001407896.1:c.2261A>C
BRCA1 transcript variant 87 NM_001407678.1:c.2351= NM_001407678.1:c.2351A>T NM_001407678.1:c.2351A>G NM_001407678.1:c.2351A>C
BRCA1 transcript variant 81 NM_001407672.1:c.2348= NM_001407672.1:c.2348A>T NM_001407672.1:c.2348A>G NM_001407672.1:c.2348A>C
BRCA1 transcript variant 173 NM_001407899.1:c.2261= NM_001407899.1:c.2261A>T NM_001407899.1:c.2261A>G NM_001407899.1:c.2261A>C
BRCA1 transcript variant 165 NM_001407886.1:c.2264= NM_001407886.1:c.2264A>T NM_001407886.1:c.2264A>G NM_001407886.1:c.2264A>C
BRCA1 transcript variant 106 NM_001407698.1:c.2333= NM_001407698.1:c.2333A>T NM_001407698.1:c.2333A>G NM_001407698.1:c.2333A>C
BRCA1 transcript variant 215 NM_001407948.1:c.2141= NM_001407948.1:c.2141A>T NM_001407948.1:c.2141A>G NM_001407948.1:c.2141A>C
BRCA1 transcript variant 133 NM_001407750.1:c.2333= NM_001407750.1:c.2333A>T NM_001407750.1:c.2333A>G NM_001407750.1:c.2333A>C
BRCA1 transcript variant 127 NM_001407744.1:c.2330= NM_001407744.1:c.2330A>T NM_001407744.1:c.2330A>G NM_001407744.1:c.2330A>C
BRCA1 transcript variant 115 NM_001407732.1:c.2333= NM_001407732.1:c.2333A>T NM_001407732.1:c.2333A>G NM_001407732.1:c.2333A>C
BRCA1 transcript variant 59 NM_001407648.1:c.2351= NM_001407648.1:c.2351A>T NM_001407648.1:c.2351A>G NM_001407648.1:c.2351A>C
BRCA1 transcript variant 217 NM_001407950.1:c.2141= NM_001407950.1:c.2141A>T NM_001407950.1:c.2141A>G NM_001407950.1:c.2141A>C
BRCA1 transcript variant 149 NM_001407852.1:c.2333= NM_001407852.1:c.2333A>T NM_001407852.1:c.2333A>G NM_001407852.1:c.2333A>C
BRCA1 transcript variant 146 NM_001407849.1:c.2330= NM_001407849.1:c.2330A>T NM_001407849.1:c.2330A>G NM_001407849.1:c.2330A>C
BRCA1 transcript variant 142 NM_001407845.1:c.2330= NM_001407845.1:c.2330A>T NM_001407845.1:c.2330A>G NM_001407845.1:c.2330A>C
BRCA1 transcript variant 125 NM_001407742.1:c.2330= NM_001407742.1:c.2330A>T NM_001407742.1:c.2330A>G NM_001407742.1:c.2330A>C
BRCA1 transcript variant 119 NM_001407736.1:c.2333= NM_001407736.1:c.2333A>T NM_001407736.1:c.2333A>G NM_001407736.1:c.2333A>C
BRCA1 transcript variant 60 NM_001407649.1:c.2348= NM_001407649.1:c.2348A>T NM_001407649.1:c.2348A>G NM_001407649.1:c.2348A>C
BRCA1 transcript variant 219 NM_001407952.1:c.2141= NM_001407952.1:c.2141A>T NM_001407952.1:c.2141A>G NM_001407952.1:c.2141A>C
BRCA1 transcript variant 121 NM_001407738.1:c.2333= NM_001407738.1:c.2333A>T NM_001407738.1:c.2333A>G NM_001407738.1:c.2333A>C
BRCA1 transcript variant 154 NM_001407860.1:c.2471= NM_001407860.1:c.2471A>T NM_001407860.1:c.2471A>G NM_001407860.1:c.2471A>C
BRCA1 transcript variant 152 NM_001407858.1:c.2474= NM_001407858.1:c.2474A>T NM_001407858.1:c.2474A>G NM_001407858.1:c.2474A>C
BRCA1 transcript variant 62 NM_001407653.1:c.2396= NM_001407653.1:c.2396A>T NM_001407653.1:c.2396A>G NM_001407653.1:c.2396A>C
BRCA1 transcript variant 151 NM_001407854.1:c.2474= NM_001407854.1:c.2474A>T NM_001407854.1:c.2474A>G NM_001407854.1:c.2474A>C
BRCA1 transcript variant 67 NM_001407658.1:c.2396= NM_001407658.1:c.2396A>T NM_001407658.1:c.2396A>G NM_001407658.1:c.2396A>C
BRCA1 transcript variant 161 NM_001407881.1:c.2264= NM_001407881.1:c.2264A>T NM_001407881.1:c.2264A>G NM_001407881.1:c.2264A>C
BRCA1 transcript variant 72 NM_001407663.1:c.2396= NM_001407663.1:c.2396A>T NM_001407663.1:c.2396A>G NM_001407663.1:c.2396A>C
BRCA1 transcript variant 70 NM_001407661.1:c.2393= NM_001407661.1:c.2393A>T NM_001407661.1:c.2393A>G NM_001407661.1:c.2393A>C
BRCA1 transcript variant 69 NM_001407660.1:c.2393= NM_001407660.1:c.2393A>T NM_001407660.1:c.2393A>G NM_001407660.1:c.2393A>C
BRCA1 transcript variant 63 NM_001407654.1:c.2396= NM_001407654.1:c.2396A>T NM_001407654.1:c.2396A>G NM_001407654.1:c.2396A>C
BRCA1 transcript variant 61 NM_001407652.1:c.2474= NM_001407652.1:c.2474A>T NM_001407652.1:c.2474A>G NM_001407652.1:c.2474A>C
BRCA1 transcript variant 172 NM_001407898.1:c.2261= NM_001407898.1:c.2261A>T NM_001407898.1:c.2261A>G NM_001407898.1:c.2261A>C
BRCA1 transcript variant 155 NM_001407861.1:c.2471= NM_001407861.1:c.2471A>T NM_001407861.1:c.2471A>G NM_001407861.1:c.2471A>C
BRCA1 transcript variant 66 NM_001407657.1:c.2396= NM_001407657.1:c.2396A>T NM_001407657.1:c.2396A>G NM_001407657.1:c.2396A>C
BRCA1 transcript variant 65 NM_001407656.1:c.2396= NM_001407656.1:c.2396A>T NM_001407656.1:c.2396A>G NM_001407656.1:c.2396A>C
BRCA1 transcript variant 231 NM_001407965.1:c.1970= NM_001407965.1:c.1970A>T NM_001407965.1:c.1970A>G NM_001407965.1:c.1970A>C
BRCA1 transcript variant 71 NM_001407662.1:c.2393= NM_001407662.1:c.2393A>T NM_001407662.1:c.2393A>G NM_001407662.1:c.2393A>C
BRCA1 transcript variant 68 NM_001407659.1:c.2393= NM_001407659.1:c.2393A>T NM_001407659.1:c.2393A>G NM_001407659.1:c.2393A>C
BRCA1 transcript variant 112 NM_001407729.1:c.2333= NM_001407729.1:c.2333A>T NM_001407729.1:c.2333A>G NM_001407729.1:c.2333A>C
BRCA1 transcript variant 126 NM_001407743.1:c.2330= NM_001407743.1:c.2330A>T NM_001407743.1:c.2330A>G NM_001407743.1:c.2330A>C
BRCA1 transcript variant 118 NM_001407735.1:c.2333= NM_001407735.1:c.2333A>T NM_001407735.1:c.2333A>G NM_001407735.1:c.2333A>C
BRCA1 transcript variant 148 NM_001407851.1:c.2333= NM_001407851.1:c.2333A>T NM_001407851.1:c.2333A>G NM_001407851.1:c.2333A>C
BRCA1 transcript variant 141 NM_001407844.1:c.2330= NM_001407844.1:c.2330A>T NM_001407844.1:c.2330A>G NM_001407844.1:c.2330A>C
BRCA1 transcript variant 111 NM_001407728.1:c.2333= NM_001407728.1:c.2333A>T NM_001407728.1:c.2333A>G NM_001407728.1:c.2333A>C
BRCA1 transcript variant 128 NM_001407745.1:c.2330= NM_001407745.1:c.2330A>T NM_001407745.1:c.2330A>G NM_001407745.1:c.2330A>C
BRCA1 transcript variant 120 NM_001407737.1:c.2333= NM_001407737.1:c.2333A>T NM_001407737.1:c.2333A>G NM_001407737.1:c.2333A>C
BRCA1 transcript variant 145 NM_001407848.1:c.2330= NM_001407848.1:c.2330A>T NM_001407848.1:c.2330A>G NM_001407848.1:c.2330A>C
BRCA1 transcript variant 137 NM_001407839.1:c.2330= NM_001407839.1:c.2330A>T NM_001407839.1:c.2330A>G NM_001407839.1:c.2330A>C
BRCA1 transcript variant 158 NM_001407874.1:c.2270= NM_001407874.1:c.2270A>T NM_001407874.1:c.2270A>G NM_001407874.1:c.2270A>C
BRCA1 transcript variant 73 NM_001407664.1:c.2351= NM_001407664.1:c.2351A>T NM_001407664.1:c.2351A>G NM_001407664.1:c.2351A>C
BRCA1 transcript variant 89 NM_001407680.1:c.2351= NM_001407680.1:c.2351A>T NM_001407680.1:c.2351A>G NM_001407680.1:c.2351A>C
BRCA1 transcript variant 84 NM_001407675.1:c.2351= NM_001407675.1:c.2351A>T NM_001407675.1:c.2351A>G NM_001407675.1:c.2351A>C
BRCA1 transcript variant 79 NM_001407670.1:c.2348= NM_001407670.1:c.2348A>T NM_001407670.1:c.2348A>G NM_001407670.1:c.2348A>C
BRCA1 transcript variant 164 NM_001407885.1:c.2264= NM_001407885.1:c.2264A>T NM_001407885.1:c.2264A>G NM_001407885.1:c.2264A>C
BRCA1 transcript variant 98 NM_001407689.1:c.2348= NM_001407689.1:c.2348A>T NM_001407689.1:c.2348A>G NM_001407689.1:c.2348A>C
BRCA1 transcript variant 90 NM_001407681.1:c.2351= NM_001407681.1:c.2351A>T NM_001407681.1:c.2351A>G NM_001407681.1:c.2351A>C
BRCA1 transcript variant 76 NM_001407667.1:c.2351= NM_001407667.1:c.2351A>T NM_001407667.1:c.2351A>G NM_001407667.1:c.2351A>C
BRCA1 transcript variant 88 NM_001407679.1:c.2351= NM_001407679.1:c.2351A>T NM_001407679.1:c.2351A>G NM_001407679.1:c.2351A>C
BRCA1 transcript variant 85 NM_001407676.1:c.2351= NM_001407676.1:c.2351A>T NM_001407676.1:c.2351A>G NM_001407676.1:c.2351A>C
BRCA1 transcript variant 80 NM_001407671.1:c.2348= NM_001407671.1:c.2348A>T NM_001407671.1:c.2348A>G NM_001407671.1:c.2348A>C
BRCA1 transcript variant 97 NM_001407688.1:c.2348= NM_001407688.1:c.2348A>T NM_001407688.1:c.2348A>G NM_001407688.1:c.2348A>C
BRCA1 transcript variant 94 NM_001407685.1:c.2348= NM_001407685.1:c.2348A>T NM_001407685.1:c.2348A>G NM_001407685.1:c.2348A>C
BRCA1 transcript variant 91 NM_001407682.1:c.2351= NM_001407682.1:c.2351A>T NM_001407682.1:c.2351A>G NM_001407682.1:c.2351A>C
BRCA1 transcript variant 77 NM_001407668.1:c.2351= NM_001407668.1:c.2351A>T NM_001407668.1:c.2351A>G NM_001407668.1:c.2351A>C
BRCA1 transcript variant 212 NM_001407945.1:c.2333= NM_001407945.1:c.2333A>T NM_001407945.1:c.2333A>G NM_001407945.1:c.2333A>C
BRCA1 transcript variant 100 NM_001407691.1:c.2348= NM_001407691.1:c.2348A>T NM_001407691.1:c.2348A>G NM_001407691.1:c.2348A>C
BRCA1 transcript variant 74 NM_001407665.1:c.2351= NM_001407665.1:c.2351A>T NM_001407665.1:c.2351A>G NM_001407665.1:c.2351A>C
BRCA1 transcript variant 213 NM_001407946.1:c.2141= NM_001407946.1:c.2141A>T NM_001407946.1:c.2141A>G NM_001407946.1:c.2141A>C
BRCA1 transcript variant 222 NM_001407955.1:c.2138= NM_001407955.1:c.2138A>T NM_001407955.1:c.2138A>G NM_001407955.1:c.2138A>C
BRCA1 transcript variant 218 NM_001407951.1:c.2141= NM_001407951.1:c.2141A>T NM_001407951.1:c.2141A>G NM_001407951.1:c.2141A>C
BRCA1 transcript variant 95 NM_001407686.1:c.2348= NM_001407686.1:c.2348A>T NM_001407686.1:c.2348A>G NM_001407686.1:c.2348A>C
BRCA1 transcript variant 225 NM_001407958.1:c.2138= NM_001407958.1:c.2138A>T NM_001407958.1:c.2138A>G NM_001407958.1:c.2138A>C
BRCA1 transcript variant 216 NM_001407949.1:c.2141= NM_001407949.1:c.2141A>T NM_001407949.1:c.2141A>G NM_001407949.1:c.2141A>C
BRCA1 transcript variant 101 NM_001407692.1:c.2333= NM_001407692.1:c.2333A>T NM_001407692.1:c.2333A>G NM_001407692.1:c.2333A>C
BRCA1 transcript variant 220 NM_001407953.1:c.2141= NM_001407953.1:c.2141A>T NM_001407953.1:c.2141A>G NM_001407953.1:c.2141A>C
BRCA1 transcript variant 224 NM_001407957.1:c.2141= NM_001407957.1:c.2141A>T NM_001407957.1:c.2141A>G NM_001407957.1:c.2141A>C
BRCA1 transcript variant 130 NM_001407747.1:c.2330= NM_001407747.1:c.2330A>T NM_001407747.1:c.2330A>G NM_001407747.1:c.2330A>C
BRCA1 transcript variant 191 NM_001407924.1:c.2210= NM_001407924.1:c.2210A>T NM_001407924.1:c.2210A>G NM_001407924.1:c.2210A>C
BRCA1 transcript variant 227 NM_001407960.1:c.2093= NM_001407960.1:c.2093A>T NM_001407960.1:c.2093A>G NM_001407960.1:c.2093A>C
BRCA1 transcript variant 196 NM_001407929.1:c.2210= NM_001407929.1:c.2210A>T NM_001407929.1:c.2210A>G NM_001407929.1:c.2210A>C
BRCA1 transcript variant 203 NM_001407936.1:c.2207= NM_001407936.1:c.2207A>T NM_001407936.1:c.2207A>G NM_001407936.1:c.2207A>C
BRCA1 transcript variant 192 NM_001407925.1:c.2210= NM_001407925.1:c.2210A>T NM_001407925.1:c.2210A>G NM_001407925.1:c.2210A>C
BRCA1 transcript variant 228 NM_001407962.1:c.2090= NM_001407962.1:c.2090A>T NM_001407962.1:c.2090A>G NM_001407962.1:c.2090A>C
BRCA1 transcript variant 199 NM_001407932.1:c.2207= NM_001407932.1:c.2207A>T NM_001407932.1:c.2207A>G NM_001407932.1:c.2207A>C
BRCA1 transcript variant 195 NM_001407928.1:c.2210= NM_001407928.1:c.2210A>T NM_001407928.1:c.2210A>G NM_001407928.1:c.2210A>C
BRCA1 transcript variant 156 NM_001407862.1:c.2273= NM_001407862.1:c.2273A>T NM_001407862.1:c.2273A>G NM_001407862.1:c.2273A>C
BRCA1 transcript variant 205 NM_001407938.1:c.2351= NM_001407938.1:c.2351A>T NM_001407938.1:c.2351A>G NM_001407938.1:c.2351A>C
BRCA1 transcript variant 207 NM_001407940.1:c.2348= NM_001407940.1:c.2348A>T NM_001407940.1:c.2348A>G NM_001407940.1:c.2348A>C
BRCA1 transcript variant 157 NM_001407863.1:c.2351= NM_001407863.1:c.2351A>T NM_001407863.1:c.2351A>G NM_001407863.1:c.2351A>C
BRCA1 transcript variant 159 NM_001407875.1:c.2270= NM_001407875.1:c.2270A>T NM_001407875.1:c.2270A>G NM_001407875.1:c.2270A>C
BRCA1 transcript variant 193 NM_001407926.1:c.2210= NM_001407926.1:c.2210A>T NM_001407926.1:c.2210A>G NM_001407926.1:c.2210A>C
BRCA1 transcript variant 202 NM_001407935.1:c.2210= NM_001407935.1:c.2210A>T NM_001407935.1:c.2210A>G NM_001407935.1:c.2210A>C
BRCA1 transcript variant 189 NM_001407922.1:c.2210= NM_001407922.1:c.2210A>T NM_001407922.1:c.2210A>G NM_001407922.1:c.2210A>C
BRCA1 transcript variant 229 NM_001407963.1:c.2093= NM_001407963.1:c.2093A>T NM_001407963.1:c.2093A>G NM_001407963.1:c.2093A>C
BRCA1 transcript variant 226 NM_001407959.1:c.2093= NM_001407959.1:c.2093A>T NM_001407959.1:c.2093A>G NM_001407959.1:c.2093A>C
BRCA1 transcript variant 198 NM_001407931.1:c.2207= NM_001407931.1:c.2207A>T NM_001407931.1:c.2207A>G NM_001407931.1:c.2207A>C
BRCA1 transcript variant 230 NM_001407964.1:c.2330= NM_001407964.1:c.2330A>T NM_001407964.1:c.2330A>G NM_001407964.1:c.2330A>C
BRCA1 transcript variant 232 NM_001407966.1:c.1586= NM_001407966.1:c.1586A>T NM_001407966.1:c.1586A>G NM_001407966.1:c.1586A>C
BRCA1 transcript variant 233 NM_001407967.1:c.1586= NM_001407967.1:c.1586A>T NM_001407967.1:c.1586A>G NM_001407967.1:c.1586A>C
BRCA1 transcript variant BRCA1b NM_007295.2:c.2474= NM_007295.2:c.2474A>T NM_007295.2:c.2474A>G NM_007295.2:c.2474A>C
BRCA1 transcript variant BRCA1-exon4 NM_007306.2:c.*2410= NM_007306.2:c.*2410A>T NM_007306.2:c.*2410A>G NM_007306.2:c.*2410A>C
BRCA1 transcript variant BRCA1a' NM_007296.2:c.2474= NM_007296.2:c.2474A>T NM_007296.2:c.2474A>G NM_007296.2:c.2474A>C
BRCA1 transcript variant 6 NR_027676.2:n.2651= NR_027676.2:n.2651A>T NR_027676.2:n.2651A>G NR_027676.2:n.2651A>C
BRCA1 transcript variant BRCA1-delta9-10 NM_007302.2:c.2351= NM_007302.2:c.2351A>T NM_007302.2:c.2351A>G NM_007302.2:c.2351A>C
BRCA1 transcript variant BRCA1-delta15-17 NM_007301.2:c.2474= NM_007301.2:c.2474A>T NM_007301.2:c.2474A>G NM_007301.2:c.2474A>C
BRCA1 transcript variant BRCA1b NM_007295.1:c.2474= NM_007295.1:c.2474A>T NM_007295.1:c.2474A>G NM_007295.1:c.2474A>C
BRCA1 transcript variant BRCA1-exon4 NM_007306.1:c.*2410= NM_007306.1:c.*2410A>T NM_007306.1:c.*2410A>G NM_007306.1:c.*2410A>C
BRCA1 transcript variant 6 NR_027676.1:n.2610= NR_027676.1:n.2610A>T NR_027676.1:n.2610A>G NR_027676.1:n.2610A>C
BRCA1 transcript variant BRCA1a' NM_007296.1:c.2474= NM_007296.1:c.2474A>T NM_007296.1:c.2474A>G NM_007296.1:c.2474A>C
BRCA1 transcript variant BRCA1-delta9-10 NM_007302.1:c.2351= NM_007302.1:c.2351A>T NM_007302.1:c.2351A>G NM_007302.1:c.2351A>C
BRCA1 transcript variant BRCA1-delta15-17 NM_007301.1:c.2474= NM_007301.1:c.2474A>T NM_007301.1:c.2474A>G NM_007301.1:c.2474A>C
breast cancer type 1 susceptibility protein isoform 2 NP_009231.2:p.Asp825= NP_009231.2:p.Asp825Val NP_009231.2:p.Asp825Gly NP_009231.2:p.Asp825Ala
breast cancer type 1 susceptibility protein isoform 1 NP_009225.1:p.Asp825= NP_009225.1:p.Asp825Val NP_009225.1:p.Asp825Gly NP_009225.1:p.Asp825Ala
breast cancer type 1 susceptibility protein isoform 3 NP_009228.2:p.Asp778= NP_009228.2:p.Asp778Val NP_009228.2:p.Asp778Gly NP_009228.2:p.Asp778Ala
BRCA1 transcript variant 4 NM_007298.3:c.787+1687= NM_007298.3:c.787+1687A>T NM_007298.3:c.787+1687A>G NM_007298.3:c.787+1687A>C
BRCA1 transcript variant 5 NM_007299.3:c.787+1687= NM_007299.3:c.787+1687A>T NM_007299.3:c.787+1687A>G NM_007299.3:c.787+1687A>C
BRCA1 transcript variant 5 NM_007299.4:c.787+1687= NM_007299.4:c.787+1687A>T NM_007299.4:c.787+1687A>G NM_007299.4:c.787+1687A>C
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 BIC_BRODY ss187447094 May 08, 2010 (132)
2 EVA ss5936326839 Oct 17, 2022 (156)
3 ClinVar RCV000111870.3 Oct 17, 2022 (156)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5936326839 NC_000017.10:41245073:T:A NC_000017.11:43093056:T:A
RCV000111870.3, ss187447094 NC_000017.11:43093056:T:A NC_000017.11:43093056:T:A (self)
ss5936326839 NC_000017.10:41245073:T:C NC_000017.11:43093056:T:C
ss5936326839 NC_000017.10:41245073:T:G NC_000017.11:43093056:T:G
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs80357249
PMID Title Author Year Journal
10923033 The breast cancer information core: database design, structure, and scope. Szabo C et al. 2000 Human mutation
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07