Linked Data
ClinVar Variation Id:
431819
dbSNP Id:
rs376772628
ExAC:
7:30640809 G / A
gnomAD v2:
7-30640809-G-A
gnomAD v3:
7-30601193-G-A
gnomAD v4:
7-30601193-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30601193G>A , CM000669.2:g.30601193G>A | GRCh38 |
| NC_000007.13:g.30640809G>A , CM000669.1:g.30640809G>A | GRCh37 |
| NC_000007.12:g.30607334G>A | NCBI36 |
| NG_007942.1:g.11629G>A , LRG_243:g.11629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.562G>A MANE Select | ENSP00000373918.3:p.Val188Ile | |
| ENST00000444666.6:c.562G>A | ENSP00000415447.2:p.Val188Ile | |
| ENST00000454308.6:c.562G>A | ENSP00000392677.2:p.Val188Ile | |
| ENST00000470392.2:n.652G>A | ||
| ENST00000478124.6:n.625G>A | ||
| ENST00000485784.2:n.641G>A | ||
| ENST00000674616.1:c.*276G>A | ENSP00000502408.1:n.*276G>A | |
| ENST00000674643.1:c.562G>A | ENSP00000501636.1:p.Val188Ile | |
| ENST00000674737.1:c.562G>A | ENSP00000502464.1:p.Val188Ile | |
| ENST00000674807.1:c.562G>A | ENSP00000502814.1:p.Val188Ile | |
| ENST00000674815.1:c.193G>A | ENSP00000502799.1:p.Val65Ile | |
| ENST00000674851.1:c.193G>A | ENSP00000502451.1:p.Val65Ile | |
| ENST00000674969.1:n.602G>A | ||
| ENST00000675025.1:n.478G>A | ||
| ENST00000675051.1:c.361G>A | ENSP00000502296.1:p.Val121Ile | |
| ENST00000675529.1:c.*432G>A | ENSP00000501655.1:n.*432G>A | |
| ENST00000675587.1:n.578G>A | ||
| ENST00000675651.1:c.562G>A | ENSP00000502513.1:p.Val188Ile | |
| ENST00000675693.1:c.394G>A | ENSP00000502174.1:p.Val132Ile | |
| ENST00000675810.1:c.460G>A | ENSP00000502743.1:p.Val154Ile | |
| ENST00000675859.1:c.562G>A | ENSP00000502033.1:p.Val188Ile | |
| ENST00000675863.1:n.570G>A | ||
| ENST00000675886.1:n.590G>A | ||
| ENST00000676088.1:c.*432G>A | ENSP00000501884.1:n.*432G>A | |
| ENST00000676140.1:c.562G>A | ENSP00000502571.1:p.Val188Ile | |
| ENST00000676164.1:c.562G>A | ENSP00000501986.1:p.Val188Ile | |
| ENST00000676210.1:c.562G>A | ENSP00000502373.1:p.Val188Ile | |
| ENST00000676259.1:c.492G>A | ENSP00000501980.1:p.Gln164= | |
| ENST00000676403.1:c.562G>A | ENSP00000502681.1:p.Val188Ile | |
| ENST00000389266.7:c.562G>A | ENSP00000373918.3:p.Val188Ile | |
| ENST00000454308.5:c.*432G>A | ENSP00000392677.1:n.*432G>A | |
| ENST00000478124.5:n.600G>A | ||
| NM_001316772.1:c.400G>A | NP_001303701.1:p.Val134Ile | |
| NM_002047.2:c.562G>A , LRG_243t1:c.562G>A | NP_002038.2:p.Val188Ile | |
| NM_002047.3:c.562G>A | NP_002038.2:p.Val188Ile | |
| XM_006715686.1:c.193G>A | XP_006715749.1:p.Val65Ile | |
| XM_006715686.2:c.193G>A | XP_006715749.1:p.Val65Ile | |
| NM_002047.4:c.562G>A MANE Select | NP_002038.2:p.Val188Ile |