Linked Data
ClinVar Variation Id:
134621
ClinVar RCV Id:
RCV000121314
RCV000234206
RCV001012201
RCV001147271
RCV001148177
RCV001358169
RCV003915210
dbSNP Id:
rs72550822
ExAC:
4:55593431 G / A
gnomAD v2:
4-55593431-G-A
gnomAD v3:
4-54727265-G-A
gnomAD v4:
4-54727265-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727265G>A , CM000666.2:g.54727265G>A | GRCh38 |
| NC_000004.11:g.55593431G>A , CM000666.1:g.55593431G>A | GRCh37 |
| NC_000004.10:g.55288188G>A | NCBI36 |
| NG_007456.1:g.74271G>A , LRG_307:g.74271G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.1579G>A | ENSP00000390987.3:p.Val527Ile | |
| ENST00000685269.1:n.1666G>A | ||
| ENST00000686011.1:c.1576G>A | ENSP00000509704.1:p.Val526Ile | |
| ENST00000687109.1:c.1591G>A | ENSP00000509371.1:p.Val531Ile | |
| ENST00000687208.1:n.2003G>A | ||
| ENST00000687246.1:c.1576G>A | ENSP00000509114.1:p.Val526Ile | |
| ENST00000687265.1:n.1746G>A | ||
| ENST00000687295.1:c.1576G>A | ENSP00000509450.1:p.Val526Ile | |
| ENST00000689832.1:c.1591G>A | ENSP00000509084.1:p.Val531Ile | |
| ENST00000689994.1:c.1078G>A | ENSP00000509156.1:p.Val360Ile | |
| ENST00000690543.1:c.1579G>A | ENSP00000508831.1:p.Val527Ile | |
| ENST00000690917.1:n.1806G>A | ||
| ENST00000691361.1:n.498G>A | ||
| ENST00000692783.1:c.1588G>A | ENSP00000508733.1:p.Val530Ile | |
| ENST00000692991.1:n.1685G>A | ||
| ENST00000288135.6:c.1588G>A MANE Select | ENSP00000288135.6:p.Val530Ile | |
| ENST00000288135.5:c.1588G>A | ENSP00000288135.5:p.Val530Ile | |
| ENST00000412167.6:c.1576G>A | ENSP00000390987.2:p.Val526Ile | |
| NM_000222.2:c.1588G>A , LRG_307t1:c.1588G>A | NP_000213.1:p.Val530Ile | |
| NM_001093772.1:c.1576G>A | NP_001087241.1:p.Val526Ile | |
| XM_005265740.1:c.1591G>A | XP_005265797.1:p.Val531Ile | |
| XM_005265741.1:c.1591G>A | XP_005265798.1:p.Val531Ile | |
| XM_005265742.1:c.1579G>A | XP_005265799.1:p.Val527Ile | |
| XM_005265742.3:c.1579G>A | XP_005265799.1:p.Val527Ile | |
| XM_017008178.1:c.1588G>A | XP_016863667.1:p.Val530Ile | |
| XM_017008179.1:c.1579G>A | XP_016863668.1:p.Val527Ile | |
| XM_017008180.1:c.1576G>A | XP_016863669.1:p.Val526Ile | |
| NM_000222.3:c.1588G>A MANE Select | NP_000213.1:p.Val530Ile | |
| NM_001093772.2:c.1576G>A | NP_001087241.1:p.Val526Ile | |
| NM_001385284.1:c.1591G>A | NP_001372213.1:p.Val531Ile | |
| NM_001385285.1:c.1588G>A | NP_001372214.1:p.Val530Ile | |
| NM_001385286.1:c.1576G>A | NP_001372215.1:p.Val526Ile | |
| NM_001385288.1:c.1579G>A | NP_001372217.1:p.Val527Ile | |
| NM_001385290.1:c.1591G>A | NP_001372219.1:p.Val531Ile | |
| NM_001385292.1:c.1579G>A | NP_001372221.1:p.Val527Ile |