Name: rs765984595
Published: September 21, 2022
License: Open Access

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.

rs765984595

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:23943801 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.000008 (2/264690, TOPMED)
C=0.000014 (2/140280, GnomAD)
C=0.000025 (3/121398, ExAC) (+ 1 more)
A=0.00004 (1/23038, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LAMA3 : 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	23038	G=0.99996	A=0.00004, C=0.00000
European	Sub	15752	G=0.99994	A=0.00006, C=0.00000
African	Sub	3492	G=1.0000	A=0.0000, C=0.0000
African Others	Sub	122	G=1.000	A=0.000, C=0.000
African American	Sub	3370	G=1.0000	A=0.0000, C=0.0000
Asian	Sub	168	G=1.000	A=0.000, C=0.000
East Asian	Sub	112	G=1.000	A=0.000, C=0.000
Other Asian	Sub	56	G=1.00	A=0.00, C=0.00
Latin American 1	Sub	146	G=1.000	A=0.000, C=0.000
Latin American 2	Sub	610	G=1.000	A=0.000, C=0.000
South Asian	Sub	98	G=1.00	A=0.00, C=0.00
Other	Sub	2772	G=1.0000	A=0.0000, C=0.0000

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.999992	C=0.000008
gnomAD - Genomes	Global	Study-wide	140280	G=0.999986	C=0.000014
gnomAD - Genomes	European	Sub	75964	G=0.99997	C=0.00003
gnomAD - Genomes	African	Sub	42044	G=1.00000	C=0.00000
gnomAD - Genomes	American	Sub	13662	G=1.00000	C=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=1.0000	C=0.0000
gnomAD - Genomes	East Asian	Sub	3132	G=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2154	G=1.0000	C=0.0000
ExAC	Global	Study-wide	121398	G=0.999975	C=0.000025
ExAC	Europe	Sub	73346	G=0.99997	C=0.00003
ExAC	Asian	Sub	25164	G=1.00000	C=0.00000
ExAC	American	Sub	11578	G=0.99991	C=0.00009
ExAC	African	Sub	10402	G=1.00000	C=0.00000
ExAC	Other	Sub	908	G=1.000	C=0.000
Allele Frequency Aggregator	Total	Global	23038	G=0.99996	A=0.00004, C=0.00000
Allele Frequency Aggregator	European	Sub	15752	G=0.99994	A=0.00006, C=0.00000
Allele Frequency Aggregator	African	Sub	3492	G=1.0000	A=0.0000, C=0.0000
Allele Frequency Aggregator	Other	Sub	2772	G=1.0000	A=0.0000, C=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Asian	Sub	168	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00, C=0.00

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 18	NC_000018.10:g.23943801G>A
GRCh38.p14 chr 18	NC_000018.10:g.23943801G>C
GRCh37.p13 chr 18	NC_000018.9:g.21523765G>A
GRCh37.p13 chr 18	NC_000018.9:g.21523765G>C
LAMA3 RefSeqGene	NG_007853.2:g.259204G>A
LAMA3 RefSeqGene	NG_007853.2:g.259204G>C

Gene: LAMA3, laminin subunit alpha 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LAMA3 transcript variant 5	NM_001302996.2:c.	N/A	Genic Downstream Transcript Variant
LAMA3 transcript variant 1	NM_198129.4:c.9040G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 1 precursor	NP_937762.2:p.Val3014Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant 1	NM_198129.4:c.9040G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 1 precursor	NP_937762.2:p.Val3014Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant 3	NM_001127717.4:c.8872G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 3 precursor	NP_001121189.2:p.Val2958M… NP_001121189.2:p.Val2958Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant 3	NM_001127717.4:c.8872G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 3 precursor	NP_001121189.2:p.Val2958L… NP_001121189.2:p.Val2958Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant 4	NM_001127718.4:c.4045G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 4 precursor	NP_001121190.2:p.Val1349M… NP_001121190.2:p.Val1349Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant 4	NM_001127718.4:c.4045G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 4 precursor	NP_001121190.2:p.Val1349L… NP_001121190.2:p.Val1349Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant 2	NM_000227.6:c.4213G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 2 precursor	NP_000218.3:p.Val1405Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant 2	NM_000227.6:c.4213G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform 2 precursor	NP_000218.3:p.Val1405Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant 6	NR_130106.2:n.	N/A	Genic Downstream Transcript Variant
LAMA3 transcript variant X10	XM_017025743.1:c.6919G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X10	XP_016881232.1:p.Val2307M… XP_016881232.1:p.Val2307Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X10	XM_017025743.1:c.6919G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X10	XP_016881232.1:p.Val2307L… XP_016881232.1:p.Val2307Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X1	XM_011525978.3:c.9067G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X1	XP_011524280.1:p.Val3023M… XP_011524280.1:p.Val3023Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X1	XM_011525978.3:c.9067G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X1	XP_011524280.1:p.Val3023L… XP_011524280.1:p.Val3023Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X2	XM_011525979.3:c.9058G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X2	XP_011524281.1:p.Val3020M… XP_011524281.1:p.Val3020Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X2	XM_011525979.3:c.9058G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X2	XP_011524281.1:p.Val3020L… XP_011524281.1:p.Val3020Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X3	XM_011525980.3:c.9049G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X3	XP_011524282.1:p.Val3017M… XP_011524282.1:p.Val3017Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X3	XM_011525980.3:c.9049G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X3	XP_011524282.1:p.Val3017L… XP_011524282.1:p.Val3017Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X4	XM_011525981.3:c.8935G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X4	XP_011524283.1:p.Val2979M… XP_011524283.1:p.Val2979Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X4	XM_011525981.3:c.8935G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X4	XP_011524283.1:p.Val2979L… XP_011524283.1:p.Val2979Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X5	XM_047437503.1:c.8926G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X5	XP_047293459.1:p.Val2976M… XP_047293459.1:p.Val2976Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X5	XM_047437503.1:c.8926G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X5	XP_047293459.1:p.Val2976L… XP_047293459.1:p.Val2976Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X6	XM_047437504.1:c.8908G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X6	XP_047293460.1:p.Val2970M… XP_047293460.1:p.Val2970Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X6	XM_047437504.1:c.8908G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X6	XP_047293460.1:p.Val2970L… XP_047293460.1:p.Val2970Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X7	XM_047437505.1:c.9067G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X7	XP_047293461.1:p.Val3023M… XP_047293461.1:p.Val3023Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X7	XM_047437505.1:c.9067G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X7	XP_047293461.1:p.Val3023L… XP_047293461.1:p.Val3023Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X8	XM_011525982.3:c.8770G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X8	XP_011524284.1:p.Val2924M… XP_011524284.1:p.Val2924Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X8	XM_011525982.3:c.8770G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X8	XP_011524284.1:p.Val2924L… XP_011524284.1:p.Val2924Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X9	XM_047437506.1:c.8743G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X9	XP_047293462.1:p.Val2915M… XP_047293462.1:p.Val2915Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X9	XM_047437506.1:c.8743G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X9	XP_047293462.1:p.Val2915L… XP_047293462.1:p.Val2915Leu	V (Val) > L (Leu)	Missense Variant
LAMA3 transcript variant X11	XM_017025744.2:c.4609G>A	V [GTG] > M [ATG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X11	XP_016881233.1:p.Val1537M… XP_016881233.1:p.Val1537Met	V (Val) > M (Met)	Missense Variant
LAMA3 transcript variant X11	XM_017025744.2:c.4609G>C	V [GTG] > L [CTG]	Coding Sequence Variant
laminin subunit alpha-3 isoform X11	XP_016881233.1:p.Val1537L… XP_016881233.1:p.Val1537Leu	V (Val) > L (Leu)	Missense Variant

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.

Not Reported in ClinVar

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
GRCh38.p14 chr 18	NC_000018.10:g.23943801=	NC_000018.10:g.23943801G>A	NC_000018.10:g.23943801G>C
GRCh37.p13 chr 18	NC_000018.9:g.21523765=	NC_000018.9:g.21523765G>A	NC_000018.9:g.21523765G>C
LAMA3 RefSeqGene	NG_007853.2:g.259204=	NG_007853.2:g.259204G>A	NG_007853.2:g.259204G>C
LAMA3 transcript variant 2	NM_000227.6:c.4213=	NM_000227.6:c.4213G>A	NM_000227.6:c.4213G>C
LAMA3 transcript variant 2	NM_000227.5:c.4213=	NM_000227.5:c.4213G>A	NM_000227.5:c.4213G>C
LAMA3 transcript variant 2	NM_000227.4:c.4213=	NM_000227.4:c.4213G>A	NM_000227.4:c.4213G>C
LAMA3 transcript variant 2	NM_000227.3:c.4213=	NM_000227.3:c.4213G>A	NM_000227.3:c.4213G>C
LAMA3 transcript variant 1	NM_198129.4:c.9040=	NM_198129.4:c.9040G>A	NM_198129.4:c.9040G>C
LAMA3 transcript variant 1	NM_198129.3:c.9040=	NM_198129.3:c.9040G>A	NM_198129.3:c.9040G>C
LAMA3 transcript variant 1	NM_198129.2:c.9040=	NM_198129.2:c.9040G>A	NM_198129.2:c.9040G>C
LAMA3 transcript variant 1	NM_198129.1:c.9040=	NM_198129.1:c.9040G>A	NM_198129.1:c.9040G>C
LAMA3 transcript variant 3	NM_001127717.4:c.8872=	NM_001127717.4:c.8872G>A	NM_001127717.4:c.8872G>C
LAMA3 transcript variant 3	NM_001127717.3:c.8872=	NM_001127717.3:c.8872G>A	NM_001127717.3:c.8872G>C
LAMA3 transcript variant 3	NM_001127717.2:c.8872=	NM_001127717.2:c.8872G>A	NM_001127717.2:c.8872G>C
LAMA3 transcript variant 3	NM_001127717.1:c.8872=	NM_001127717.1:c.8872G>A	NM_001127717.1:c.8872G>C
LAMA3 transcript variant 4	NM_001127718.4:c.4045=	NM_001127718.4:c.4045G>A	NM_001127718.4:c.4045G>C
LAMA3 transcript variant 4	NM_001127718.3:c.4045=	NM_001127718.3:c.4045G>A	NM_001127718.3:c.4045G>C
LAMA3 transcript variant 4	NM_001127718.2:c.4045=	NM_001127718.2:c.4045G>A	NM_001127718.2:c.4045G>C
LAMA3 transcript variant 4	NM_001127718.1:c.4045=	NM_001127718.1:c.4045G>A	NM_001127718.1:c.4045G>C
LAMA3 transcript variant X1	XM_011525978.3:c.9067=	XM_011525978.3:c.9067G>A	XM_011525978.3:c.9067G>C
LAMA3 transcript variant X1	XM_011525978.2:c.9067=	XM_011525978.2:c.9067G>A	XM_011525978.2:c.9067G>C
LAMA3 transcript variant X1	XM_011525978.1:c.9067=	XM_011525978.1:c.9067G>A	XM_011525978.1:c.9067G>C
LAMA3 transcript variant X2	XM_011525979.3:c.9058=	XM_011525979.3:c.9058G>A	XM_011525979.3:c.9058G>C
LAMA3 transcript variant X2	XM_011525979.2:c.9058=	XM_011525979.2:c.9058G>A	XM_011525979.2:c.9058G>C
LAMA3 transcript variant X2	XM_011525979.1:c.9058=	XM_011525979.1:c.9058G>A	XM_011525979.1:c.9058G>C
LAMA3 transcript variant X3	XM_011525980.3:c.9049=	XM_011525980.3:c.9049G>A	XM_011525980.3:c.9049G>C
LAMA3 transcript variant X3	XM_011525980.2:c.9049=	XM_011525980.2:c.9049G>A	XM_011525980.2:c.9049G>C
LAMA3 transcript variant X3	XM_011525980.1:c.9049=	XM_011525980.1:c.9049G>A	XM_011525980.1:c.9049G>C
LAMA3 transcript variant X4	XM_011525981.3:c.8935=	XM_011525981.3:c.8935G>A	XM_011525981.3:c.8935G>C
LAMA3 transcript variant X4	XM_011525981.2:c.8935=	XM_011525981.2:c.8935G>A	XM_011525981.2:c.8935G>C
LAMA3 transcript variant X4	XM_011525981.1:c.8935=	XM_011525981.1:c.8935G>A	XM_011525981.1:c.8935G>C
LAMA3 transcript variant X8	XM_011525982.3:c.8770=	XM_011525982.3:c.8770G>A	XM_011525982.3:c.8770G>C
LAMA3 transcript variant X6	XM_011525982.2:c.8770=	XM_011525982.2:c.8770G>A	XM_011525982.2:c.8770G>C
LAMA3 transcript variant X5	XM_011525982.1:c.8770=	XM_011525982.1:c.8770G>A	XM_011525982.1:c.8770G>C
LAMA3 transcript variant X11	XM_017025744.2:c.4609=	XM_017025744.2:c.4609G>A	XM_017025744.2:c.4609G>C
LAMA3 transcript variant X8	XM_017025744.1:c.4609=	XM_017025744.1:c.4609G>A	XM_017025744.1:c.4609G>C
LAMA3 transcript variant X5	XM_047437503.1:c.8926=	XM_047437503.1:c.8926G>A	XM_047437503.1:c.8926G>C
LAMA3 transcript variant X6	XM_047437504.1:c.8908=	XM_047437504.1:c.8908G>A	XM_047437504.1:c.8908G>C
LAMA3 transcript variant X9	XM_047437506.1:c.8743=	XM_047437506.1:c.8743G>A	XM_047437506.1:c.8743G>C
LAMA3 transcript variant X7	XM_047437505.1:c.9067=	XM_047437505.1:c.9067G>A	XM_047437505.1:c.9067G>C
LAMA3 transcript variant X10	XM_017025743.1:c.6919=	XM_017025743.1:c.6919G>A	XM_017025743.1:c.6919G>C
laminin subunit alpha-3 isoform 2 precursor	NP_000218.3:p.Val1405=	NP_000218.3:p.Val1405Met	NP_000218.3:p.Val1405Leu
laminin subunit alpha-3 isoform 1 precursor	NP_937762.2:p.Val3014=	NP_937762.2:p.Val3014Met	NP_937762.2:p.Val3014Leu
laminin subunit alpha-3 isoform 3 precursor	NP_001121189.2:p.Val2958=	NP_001121189.2:p.Val2958Met	NP_001121189.2:p.Val2958Leu
laminin subunit alpha-3 isoform 4 precursor	NP_001121190.2:p.Val1349=	NP_001121190.2:p.Val1349Met	NP_001121190.2:p.Val1349Leu
laminin subunit alpha-3 isoform X1	XP_011524280.1:p.Val3023=	XP_011524280.1:p.Val3023Met	XP_011524280.1:p.Val3023Leu
laminin subunit alpha-3 isoform X2	XP_011524281.1:p.Val3020=	XP_011524281.1:p.Val3020Met	XP_011524281.1:p.Val3020Leu
laminin subunit alpha-3 isoform X3	XP_011524282.1:p.Val3017=	XP_011524282.1:p.Val3017Met	XP_011524282.1:p.Val3017Leu
laminin subunit alpha-3 isoform X4	XP_011524283.1:p.Val2979=	XP_011524283.1:p.Val2979Met	XP_011524283.1:p.Val2979Leu
laminin subunit alpha-3 isoform X8	XP_011524284.1:p.Val2924=	XP_011524284.1:p.Val2924Met	XP_011524284.1:p.Val2924Leu
laminin subunit alpha-3 isoform X11	XP_016881233.1:p.Val1537=	XP_016881233.1:p.Val1537Met	XP_016881233.1:p.Val1537Leu
laminin subunit alpha-3 isoform X5	XP_047293459.1:p.Val2976=	XP_047293459.1:p.Val2976Met	XP_047293459.1:p.Val2976Leu
laminin subunit alpha-3 isoform X6	XP_047293460.1:p.Val2970=	XP_047293460.1:p.Val2970Met	XP_047293460.1:p.Val2970Leu
laminin subunit alpha-3 isoform X9	XP_047293462.1:p.Val2915=	XP_047293462.1:p.Val2915Met	XP_047293462.1:p.Val2915Leu
laminin subunit alpha-3 isoform X7	XP_047293461.1:p.Val3023=	XP_047293461.1:p.Val3023Met	XP_047293461.1:p.Val3023Leu
laminin subunit alpha-3 isoform X10	XP_016881232.1:p.Val2307=	XP_016881232.1:p.Val2307Met	XP_016881232.1:p.Val2307Leu
laminin subunit alpha-3 isoform 2 precursor	NP_000218.2:p.Val1405=	NP_000218.2:p.Val1405Met	NP_000218.2:p.Val1405Leu
laminin subunit alpha-3 isoform 3 precursor	NP_001121189.1:p.Val2958=	NP_001121189.1:p.Val2958Met	NP_001121189.1:p.Val2958Leu
laminin subunit alpha-3 isoform 4 precursor	NP_001121190.1:p.Val1349=	NP_001121190.1:p.Val1349Met	NP_001121190.1:p.Val1349Leu
laminin subunit alpha-3 isoform 1 precursor	NP_937762.1:p.Val3014=	NP_937762.1:p.Val3014Met	NP_937762.1:p.Val3014Leu

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#.

4 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_EXAC	ss1693107231	Apr 01, 2015 (144)
2	GNOMAD	ss2743230150	Nov 08, 2017 (151)
3	GNOMAD	ss4319117198	Apr 27, 2021 (155)
4	TOPMED	ss5050720442	Apr 27, 2021 (155)
5	ExAC	NC_000018.9 - 21523765	Oct 12, 2018 (152)
6	gnomAD - Genomes	NC_000018.10 - 23943801	Apr 27, 2021 (155)
7	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12540723 (NC_000018.9:21523764:G:G 251151/251152, NC_000018.9:21523764:G:A 1/251152) Row 12540724 (NC_000018.9:21523764:G:G 251144/251152, NC_000018.9:21523764:G:C 8/251152)	-	Jul 13, 2019 (153)
8	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12540723 (NC_000018.9:21523764:G:G 251151/251152, NC_000018.9:21523764:G:A 1/251152) Row 12540724 (NC_000018.9:21523764:G:G 251144/251152, NC_000018.9:21523764:G:C 8/251152)	-	Jul 13, 2019 (153)
9	TopMed	NC_000018.10 - 23943801	Apr 27, 2021 (155)
10	ALFA	NC_000018.10 - 23943801	Apr 27, 2021 (155)

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
ss2743230150	NC_000018.9:21523764:G:A	NC_000018.10:23943800:G:A	(self)
7584290140	NC_000018.10:23943800:G:A	NC_000018.10:23943800:G:A	(self)
3575628, ss1693107231, ss2743230150	NC_000018.9:21523764:G:C	NC_000018.10:23943800:G:C	(self)
519685965, 266266105, 7584290140, ss4319117198, ss5050720442	NC_000018.10:23943800:G:C	NC_000018.10:23943800:G:C	(self)

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

No publications for rs765984595

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs765984595