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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs371950280

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:3089581 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/240380, GnomAD_exome)
T=0.000008 (1/119614, ExAC)
A=0.00000 (0/14050, ALFA) (+ 2 more)
T=0.00000 (0/14050, ALFA)
T=0.00008 (1/12912, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RIPK1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 G=1.00000 A=0.00000, T=0.00000
European Sub 9690 G=1.0000 A=0.0000, T=0.0000
African Sub 2898 G=1.0000 A=0.0000, T=0.0000
African Others Sub 114 G=1.000 A=0.000, T=0.000
African American Sub 2784 G=1.0000 A=0.0000, T=0.0000
Asian Sub 112 G=1.000 A=0.000, T=0.000
East Asian Sub 86 G=1.00 A=0.00, T=0.00
Other Asian Sub 26 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 496 G=1.000 A=0.000, T=0.000


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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 240380 G=0.999992 T=0.000008
gnomAD - Exomes European Sub 132400 G=0.999992 T=0.000008
gnomAD - Exomes Asian Sub 45850 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 31280 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 15346 G=0.99993 T=0.00007
gnomAD - Exomes Ashkenazi Jewish Sub 9632 G=1.0000 T=0.0000
gnomAD - Exomes Other Sub 5872 G=1.0000 T=0.0000
ExAC Global Study-wide 119614 G=0.999992 T=0.000008
ExAC Europe Sub 72502 G=1.00000 T=0.00000
ExAC Asian Sub 25040 G=1.00000 T=0.00000
ExAC American Sub 11546 G=1.00000 T=0.00000
ExAC African Sub 9628 G=0.9999 T=0.0001
ExAC Other Sub 898 G=1.000 T=0.000
Allele Frequency Aggregator Total Global 14050 G=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, T=0.00
GO Exome Sequencing Project Global Study-wide 12912 G=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8560 G=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4352 G=0.9998 T=0.0002
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 6 NC_000006.12:g.3089581G>A
GRCh38.p14 chr 6 NC_000006.12:g.3089581G>C
GRCh38.p14 chr 6 NC_000006.12:g.3089581G>T
GRCh37.p13 chr 6 NC_000006.11:g.3089815G>A
GRCh37.p13 chr 6 NC_000006.11:g.3089815G>C
GRCh37.p13 chr 6 NC_000006.11:g.3089815G>T
RIPK1 RefSeqGene NG_063914.1:g.30741G>A
RIPK1 RefSeqGene NG_063914.1:g.30741G>C
RIPK1 RefSeqGene NG_063914.1:g.30741G>T
Gene: RIPK1, receptor interacting serine/threonine kinase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RIPK1 transcript variant 3 NM_001354930.2:c.839G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_001341859.1:p.Gly280Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant 3 NM_001354930.2:c.839G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_001341859.1:p.Gly280Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant 3 NM_001354930.2:c.839G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_001341859.1:p.Gly280Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant 1 NM_003804.6:c.839G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_003795.2:p.Gly280Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant 1 NM_003804.6:c.839G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_003795.2:p.Gly280Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant 1 NM_003804.6:c.839G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_003795.2:p.Gly280Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant 6 NM_001354933.2:c.350G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341862.1:p.Gly117Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant 6 NM_001354933.2:c.350G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341862.1:p.Gly117Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant 6 NM_001354933.2:c.350G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341862.1:p.Gly117Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant 7 NM_001354934.2:c.350G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341863.1:p.Gly117Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant 7 NM_001354934.2:c.350G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341863.1:p.Gly117Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant 7 NM_001354934.2:c.350G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341863.1:p.Gly117Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant 5 NM_001354932.2:c.350G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341861.1:p.Gly117Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant 5 NM_001354932.2:c.350G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341861.1:p.Gly117Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant 5 NM_001354932.2:c.350G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341861.1:p.Gly117Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant 2 NM_001317061.3:c.350G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001303990.1:p.Gly117Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant 2 NM_001317061.3:c.350G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001303990.1:p.Gly117Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant 2 NM_001317061.3:c.350G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001303990.1:p.Gly117Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant 4 NM_001354931.2:c.701G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 3 NP_001341860.1:p.Gly234Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant 4 NM_001354931.2:c.701G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 3 NP_001341860.1:p.Gly234Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant 4 NM_001354931.2:c.701G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform 3 NP_001341860.1:p.Gly234Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant X4 XM_017011404.3:c. N/A Genic Upstream Transcript Variant
RIPK1 transcript variant X6 XM_047419445.1:c.962G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275401.1:p.Gly321Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant X6 XM_047419445.1:c.962G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275401.1:p.Gly321Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant X6 XM_047419445.1:c.962G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275401.1:p.Gly321Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant X7 XM_047419446.1:c.962G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275402.1:p.Gly321Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant X7 XM_047419446.1:c.962G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275402.1:p.Gly321Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant X7 XM_047419446.1:c.962G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275402.1:p.Gly321Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant X8 XM_047419447.1:c.839G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275403.1:p.Gly280Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant X8 XM_047419447.1:c.839G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275403.1:p.Gly280Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant X8 XM_047419447.1:c.839G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275403.1:p.Gly280Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant X1 XM_047419448.1:c.839G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275404.1:p.Gly280Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant X1 XM_047419448.1:c.839G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275404.1:p.Gly280Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant X1 XM_047419448.1:c.839G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275404.1:p.Gly280Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant X2 XM_006715237.4:c.839G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_006715300.2:p.Gly280Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant X2 XM_006715237.4:c.839G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_006715300.2:p.Gly280Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant X2 XM_006715237.4:c.839G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_006715300.2:p.Gly280Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant X3 XM_017011403.2:c.350G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X3 XP_016866892.1:p.Gly117Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant X3 XM_017011403.2:c.350G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X3 XP_016866892.1:p.Gly117Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant X3 XM_017011403.2:c.350G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X3 XP_016866892.1:p.Gly117Val G (Gly) > V (Val) Missense Variant
RIPK1 transcript variant X5 XM_017011405.2:c.839G>A G [GGC] > D [GAC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_016866894.1:p.Gly280Asp G (Gly) > D (Asp) Missense Variant
RIPK1 transcript variant X5 XM_017011405.2:c.839G>C G [GGC] > A [GCC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_016866894.1:p.Gly280Ala G (Gly) > A (Ala) Missense Variant
RIPK1 transcript variant X5 XM_017011405.2:c.839G>T G [GGC] > V [GTC] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_016866894.1:p.Gly280Val G (Gly) > V (Val) Missense 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: 1455482 )
ClinVar Accession Disease Names Clinical Significance
RCV002043421.1 not provided Uncertain-Significance
Allele: T (allele ID: 1515341 )
ClinVar Accession Disease Names Clinical Significance
RCV002027158.1 not provided 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 G= A C T
GRCh38.p14 chr 6 NC_000006.12:g.3089581= NC_000006.12:g.3089581G>A NC_000006.12:g.3089581G>C NC_000006.12:g.3089581G>T
GRCh37.p13 chr 6 NC_000006.11:g.3089815= NC_000006.11:g.3089815G>A NC_000006.11:g.3089815G>C NC_000006.11:g.3089815G>T
RIPK1 RefSeqGene NG_063914.1:g.30741= NG_063914.1:g.30741G>A NG_063914.1:g.30741G>C NG_063914.1:g.30741G>T
RIPK1 transcript variant 1 NM_003804.6:c.839= NM_003804.6:c.839G>A NM_003804.6:c.839G>C NM_003804.6:c.839G>T
RIPK1 transcript variant 1 NM_003804.5:c.839= NM_003804.5:c.839G>A NM_003804.5:c.839G>C NM_003804.5:c.839G>T
RIPK1 transcript variant 1 NM_003804.4:c.839= NM_003804.4:c.839G>A NM_003804.4:c.839G>C NM_003804.4:c.839G>T
RIPK1 transcript NM_003804.3:c.839= NM_003804.3:c.839G>A NM_003804.3:c.839G>C NM_003804.3:c.839G>T
RIPK1 transcript variant 2 NM_001317061.3:c.350= NM_001317061.3:c.350G>A NM_001317061.3:c.350G>C NM_001317061.3:c.350G>T
RIPK1 transcript variant 2 NM_001317061.2:c.350= NM_001317061.2:c.350G>A NM_001317061.2:c.350G>C NM_001317061.2:c.350G>T
RIPK1 transcript variant 2 NM_001317061.1:c.350= NM_001317061.1:c.350G>A NM_001317061.1:c.350G>C NM_001317061.1:c.350G>T
RIPK1 transcript variant 7 NM_001354934.2:c.350= NM_001354934.2:c.350G>A NM_001354934.2:c.350G>C NM_001354934.2:c.350G>T
RIPK1 transcript variant 7 NM_001354934.1:c.350= NM_001354934.1:c.350G>A NM_001354934.1:c.350G>C NM_001354934.1:c.350G>T
RIPK1 transcript variant 6 NM_001354933.2:c.350= NM_001354933.2:c.350G>A NM_001354933.2:c.350G>C NM_001354933.2:c.350G>T
RIPK1 transcript variant 6 NM_001354933.1:c.350= NM_001354933.1:c.350G>A NM_001354933.1:c.350G>C NM_001354933.1:c.350G>T
RIPK1 transcript variant 5 NM_001354932.2:c.350= NM_001354932.2:c.350G>A NM_001354932.2:c.350G>C NM_001354932.2:c.350G>T
RIPK1 transcript variant 5 NM_001354932.1:c.350= NM_001354932.1:c.350G>A NM_001354932.1:c.350G>C NM_001354932.1:c.350G>T
RIPK1 transcript variant 3 NM_001354930.2:c.839= NM_001354930.2:c.839G>A NM_001354930.2:c.839G>C NM_001354930.2:c.839G>T
RIPK1 transcript variant 3 NM_001354930.1:c.839= NM_001354930.1:c.839G>A NM_001354930.1:c.839G>C NM_001354930.1:c.839G>T
RIPK1 transcript variant 4 NM_001354931.2:c.701= NM_001354931.2:c.701G>A NM_001354931.2:c.701G>C NM_001354931.2:c.701G>T
RIPK1 transcript variant 4 NM_001354931.1:c.701= NM_001354931.1:c.701G>A NM_001354931.1:c.701G>C NM_001354931.1:c.701G>T
RIPK1 transcript variant X2 XM_006715237.4:c.839= XM_006715237.4:c.839G>A XM_006715237.4:c.839G>C XM_006715237.4:c.839G>T
RIPK1 transcript variant X1 XM_006715237.3:c.839= XM_006715237.3:c.839G>A XM_006715237.3:c.839G>C XM_006715237.3:c.839G>T
RIPK1 transcript variant X4 XM_006715237.2:c.839= XM_006715237.2:c.839G>A XM_006715237.2:c.839G>C XM_006715237.2:c.839G>T
RIPK1 transcript variant X4 XM_006715237.1:c.1349= XM_006715237.1:c.1349G>A XM_006715237.1:c.1349G>C XM_006715237.1:c.1349G>T
RIPK1 transcript variant X3 XM_017011403.2:c.350= XM_017011403.2:c.350G>A XM_017011403.2:c.350G>C XM_017011403.2:c.350G>T
RIPK1 transcript variant X2 XM_017011403.1:c.350= XM_017011403.1:c.350G>A XM_017011403.1:c.350G>C XM_017011403.1:c.350G>T
RIPK1 transcript variant X5 XM_017011405.2:c.839= XM_017011405.2:c.839G>A XM_017011405.2:c.839G>C XM_017011405.2:c.839G>T
RIPK1 transcript variant X4 XM_017011405.1:c.839= XM_017011405.1:c.839G>A XM_017011405.1:c.839G>C XM_017011405.1:c.839G>T
RIPK1 transcript variant X8 XM_047419447.1:c.839= XM_047419447.1:c.839G>A XM_047419447.1:c.839G>C XM_047419447.1:c.839G>T
RIPK1 transcript variant X6 XM_047419445.1:c.962= XM_047419445.1:c.962G>A XM_047419445.1:c.962G>C XM_047419445.1:c.962G>T
RIPK1 transcript variant X7 XM_047419446.1:c.962= XM_047419446.1:c.962G>A XM_047419446.1:c.962G>C XM_047419446.1:c.962G>T
RIPK1 transcript variant X1 XM_047419448.1:c.839= XM_047419448.1:c.839G>A XM_047419448.1:c.839G>C XM_047419448.1:c.839G>T
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_003795.2:p.Gly280= NP_003795.2:p.Gly280Asp NP_003795.2:p.Gly280Ala NP_003795.2:p.Gly280Val
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001303990.1:p.Gly117= NP_001303990.1:p.Gly117Asp NP_001303990.1:p.Gly117Ala NP_001303990.1:p.Gly117Val
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341863.1:p.Gly117= NP_001341863.1:p.Gly117Asp NP_001341863.1:p.Gly117Ala NP_001341863.1:p.Gly117Val
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341862.1:p.Gly117= NP_001341862.1:p.Gly117Asp NP_001341862.1:p.Gly117Ala NP_001341862.1:p.Gly117Val
receptor-interacting serine/threonine-protein kinase 1 isoform 2 NP_001341861.1:p.Gly117= NP_001341861.1:p.Gly117Asp NP_001341861.1:p.Gly117Ala NP_001341861.1:p.Gly117Val
receptor-interacting serine/threonine-protein kinase 1 isoform 1 NP_001341859.1:p.Gly280= NP_001341859.1:p.Gly280Asp NP_001341859.1:p.Gly280Ala NP_001341859.1:p.Gly280Val
receptor-interacting serine/threonine-protein kinase 1 isoform 3 NP_001341860.1:p.Gly234= NP_001341860.1:p.Gly234Asp NP_001341860.1:p.Gly234Ala NP_001341860.1:p.Gly234Val
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_006715300.2:p.Gly280= XP_006715300.2:p.Gly280Asp XP_006715300.2:p.Gly280Ala XP_006715300.2:p.Gly280Val
receptor-interacting serine/threonine-protein kinase 1 isoform X3 XP_016866892.1:p.Gly117= XP_016866892.1:p.Gly117Asp XP_016866892.1:p.Gly117Ala XP_016866892.1:p.Gly117Val
receptor-interacting serine/threonine-protein kinase 1 isoform X2 XP_016866894.1:p.Gly280= XP_016866894.1:p.Gly280Asp XP_016866894.1:p.Gly280Ala XP_016866894.1:p.Gly280Val
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275403.1:p.Gly280= XP_047275403.1:p.Gly280Asp XP_047275403.1:p.Gly280Ala XP_047275403.1:p.Gly280Val
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275401.1:p.Gly321= XP_047275401.1:p.Gly321Asp XP_047275401.1:p.Gly321Ala XP_047275401.1:p.Gly321Val
receptor-interacting serine/threonine-protein kinase 1 isoform X5 XP_047275402.1:p.Gly321= XP_047275402.1:p.Gly321Asp XP_047275402.1:p.Gly321Ala XP_047275402.1:p.Gly321Val
receptor-interacting serine/threonine-protein kinase 1 isoform X1 XP_047275404.1:p.Gly280= XP_047275404.1:p.Gly280Asp XP_047275404.1:p.Gly280Ala XP_047275404.1:p.Gly280Val
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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#.

9 SubSNP, 8 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712688151 Apr 25, 2013 (138)
2 EVA_EXAC ss1688141270 Apr 01, 2015 (144)
3 GNOMAD ss2735512074 Nov 08, 2017 (151)
4 EVA ss3824151815 Apr 26, 2020 (154)
5 GNOMAD ss4135881296 Apr 26, 2021 (155)
6 GNOMAD ss4135881297 Apr 26, 2021 (155)
7 TOPMED ss4691608427 Apr 26, 2021 (155)
8 TOPMED ss4691608428 Apr 26, 2021 (155)
9 EVA ss5841705415 Oct 13, 2022 (156)
10 ExAC NC_000006.11 - 3089815 Oct 12, 2018 (152)
11 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 215348923 (NC_000006.12:3089580:G:A 1/140214)
Row 215348924 (NC_000006.12:3089580:G:T 3/140214)

- Apr 26, 2021 (155)
12 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 215348923 (NC_000006.12:3089580:G:A 1/140214)
Row 215348924 (NC_000006.12:3089580:G:T 3/140214)

- Apr 26, 2021 (155)
13 gnomAD - Exomes NC_000006.11 - 3089815 Jul 13, 2019 (153)
14 GO Exome Sequencing Project NC_000006.11 - 3089815 Oct 12, 2018 (152)
15 TopMed

Submission ignored due to conflicting rows:
Row 528985985 (NC_000006.12:3089580:G:A 5/264690)
Row 528985986 (NC_000006.12:3089580:G:T 3/264690)

- Apr 26, 2021 (155)
16 TopMed

Submission ignored due to conflicting rows:
Row 528985985 (NC_000006.12:3089580:G:A 5/264690)
Row 528985986 (NC_000006.12:3089580:G:T 3/264690)

- Apr 26, 2021 (155)
17 ALFA NC_000006.12 - 3089581 Apr 26, 2021 (155)
18 ClinVar RCV002027158.1 Oct 13, 2022 (156)
19 ClinVar RCV002043421.1 Oct 13, 2022 (156)
Help

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
RCV002043421.1, 3697599344, ss4135881296, ss4691608427 NC_000006.12:3089580:G:A NC_000006.12:3089580:G:A (self)
ss5841705415 NC_000006.11:3089814:G:C NC_000006.12:3089580:G:C
8158601, 4647308, 609872, ss712688151, ss1688141270, ss2735512074, ss3824151815 NC_000006.11:3089814:G:T NC_000006.12:3089580:G:T (self)
RCV002027158.1, 3697599344, ss4135881297, ss4691608428 NC_000006.12:3089580:G:T NC_000006.12:3089580:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs371950280

Help

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
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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