Linked Data
ClinVar Variation Id:
37660
dbSNP Id:
rs80357069
ExAC:
17:41201181 C / A
gnomAD v3:
17-43049164-C-A
gnomAD v4:
17-43049164-C-A
PubMed:
PMID:9796975
PMID:12354934
PMID:14534301
PMID:15004537
PMID:15133502
PMID:15172985
PMID:15235020
PMID:15689452
PMID:16267036
PMID:17305420
PMID:17308087
PMID:17924331
PMID:18418466
PMID:18512148
PMID:18992264
PMID:20378548
PMID:20516115
PMID:21447777
PMID:21614564
PMID:21990134
PMID:23318652
PMID:26295337
PMID:26689913
PMID:26787237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049164C>A , CM000679.2:g.43049164C>A | GRCh38 |
| NC_000017.10:g.41201181C>A , CM000679.1:g.41201181C>A | GRCh37 |
| NC_000017.9:g.38454707C>A | NCBI36 |
| NG_005905.2:g.168820G>T , LRG_292:g.168820G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5360G>T | ENSP00000417241.2:p.Gly1787Val | |
| ENST00000470026.6:c.5363G>T | ENSP00000419274.2:p.Gly1788Val | |
| ENST00000473961.6:c.5237G>T | ENSP00000420201.2:p.Gly1746Val | |
| ENST00000476777.6:c.5357G>T | ENSP00000417554.2:p.Gly1786Val | |
| ENST00000477152.6:c.5285G>T | ENSP00000419988.2:p.Gly1762Val | |
| ENST00000478531.6:c.2051G>T | ENSP00000420412.2:p.Gly684Val | |
| ENST00000489037.2:c.5285G>T | ENSP00000420781.2:p.Gly1762Val | |
| ENST00000493919.6:c.1913G>T | ENSP00000418819.2:p.Gly638Val | |
| ENST00000494123.6:c.5363G>T | ENSP00000419103.2:p.Gly1788Val | |
| ENST00000497488.2:c.4475G>T | ENSP00000418986.2:p.Gly1492Val | |
| ENST00000618469.2:c.5363G>T | ENSP00000478114.2:p.Gly1788Val | |
| ENST00000634433.2:c.5240G>T | ENSP00000489431.2:p.Gly1747Val | |
| ENST00000644379.2:c.5429G>T | ENSP00000496570.2:p.Gly1810Val | |
| ENST00000644555.2:c.1913G>T | ENSP00000494614.2:p.Gly638Val | |
| ENST00000652672.2:c.5222G>T | ENSP00000498906.2:p.Gly1741Val | |
| ENST00000484087.6:c.1925G>T | ENSP00000419481.2:p.Gly642Val | |
| ENST00000700081.1:n.1246G>T | ||
| ENST00000357654.9:c.5363G>T MANE Select | ENSP00000350283.3:p.Gly1788Val | |
| ENST00000471181.7:c.5426G>T | ENSP00000418960.2:p.Gly1809Val | |
| ENST00000644379.1:c.1750G>T | ||
| ENST00000352993.7:c.1937G>T | ENSP00000312236.5:p.Gly646Val | |
| ENST00000357654.7:c.5363G>T | ENSP00000350283.3:p.Gly1788Val | |
| ENST00000461221.5:c.*5146G>T | ENSP00000418548.1:n.*5146G>T | |
| ENST00000468300.5:c.2021-1461G>T | ENSP00000417148.1:n.2021-1461G>T | |
| ENST00000471181.6:c.5426G>T | ENSP00000418960.2:p.Gly1809Val | |
| ENST00000491747.6:c.2051G>T | ENSP00000420705.2:p.Gly684Val | |
| ENST00000493795.5:c.5222G>T | ENSP00000418775.1:p.Gly1741Val | |
| ENST00000586385.5:c.293G>T | ENSP00000465818.1:p.Gly98Val | |
| ENST00000591534.5:c.836G>T | ENSP00000467329.1:p.Gly279Val | |
| ENST00000591849.5:c.62G>T | ENSP00000465347.1:p.Gly21Val | |
| NM_007294.3:c.5363G>T , LRG_292t1:c.5363G>T | NP_009225.1:p.Gly1788Val | |
| NM_007297.3:c.5222G>T | NP_009228.2:p.Gly1741Val | |
| NM_007298.3:c.2051G>T | NP_009229.2:p.Gly684Val | |
| NM_007299.3:c.2021-1461G>T | NP_009230.2:n.2021-1461G>T | |
| NM_007300.3:c.5426G>T | NP_009231.2:p.Gly1809Val | |
| NR_027676.1:n.5499G>T | ||
| NM_007294.4:c.5363G>T MANE Select | NP_009225.1:p.Gly1788Val | |
| NM_007297.4:c.5222G>T | NP_009228.2:p.Gly1741Val | |
| NM_007299.4:c.2021-1461G>T | NP_009230.2:n.2021-1461G>T | |
| NM_007300.4:c.5426G>T | NP_009231.2:p.Gly1809Val | |
| NR_027676.2:n.5540G>T |