Linked Data
ClinVar Variation Id:
245853
dbSNP Id:
rs77518956
ExAC:
7:30649252 G / A
gnomAD v2:
7-30649252-G-A
gnomAD v3:
7-30609636-G-A
gnomAD v4:
7-30609636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30609636G>A , CM000669.2:g.30609636G>A | GRCh38 |
| NC_000007.13:g.30649252G>A , CM000669.1:g.30649252G>A | GRCh37 |
| NC_000007.12:g.30615777G>A | NCBI36 |
| NG_007942.1:g.20072G>A , LRG_243:g.20072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.787G>A MANE Select | ENSP00000373918.3:p.Val263Ile | |
| ENST00000444666.6:c.787G>A | ENSP00000415447.2:p.Val263Ile | |
| ENST00000470392.2:n.877G>A | ||
| ENST00000478124.6:n.850G>A | ||
| ENST00000485784.2:n.866G>A | ||
| ENST00000674616.1:c.*501G>A | ENSP00000502408.1:n.*501G>A | |
| ENST00000674643.1:c.787G>A | ENSP00000501636.1:p.Val263Ile | |
| ENST00000674734.1:n.1283G>A | ||
| ENST00000674737.1:c.*125G>A | ENSP00000502464.1:n.*125G>A | |
| ENST00000674807.1:c.787G>A | ENSP00000502814.1:p.Val263Ile | |
| ENST00000674815.1:c.418G>A | ENSP00000502799.1:p.Val140Ile | |
| ENST00000674851.1:c.418G>A | ENSP00000502451.1:p.Val140Ile | |
| ENST00000674969.1:n.2660G>A | ||
| ENST00000675051.1:c.586G>A | ENSP00000502296.1:p.Val196Ile | |
| ENST00000675529.1:c.*657G>A | ENSP00000501655.1:n.*657G>A | |
| ENST00000675587.1:n.803G>A | ||
| ENST00000675651.1:c.787G>A | ENSP00000502513.1:p.Val263Ile | |
| ENST00000675693.1:c.619G>A | ENSP00000502174.1:p.Val207Ile | |
| ENST00000675810.1:c.685G>A | ENSP00000502743.1:p.Val229Ile | |
| ENST00000675859.1:c.787G>A | ENSP00000502033.1:p.Val263Ile | |
| ENST00000675863.1:n.795G>A | ||
| ENST00000675886.1:n.6827G>A | ||
| ENST00000676088.1:c.*729G>A | ENSP00000501884.1:n.*729G>A | |
| ENST00000676140.1:c.787G>A | ENSP00000502571.1:p.Val263Ile | |
| ENST00000676164.1:c.*238G>A | ENSP00000501986.1:n.*238G>A | |
| ENST00000676210.1:c.*76G>A | ENSP00000502373.1:n.*76G>A | |
| ENST00000676259.1:c.*219G>A | ENSP00000501980.1:n.*219G>A | |
| ENST00000676403.1:c.787G>A | ENSP00000502681.1:p.Val263Ile | |
| ENST00000389266.7:c.787G>A | ENSP00000373918.3:p.Val263Ile | |
| ENST00000478124.5:n.825G>A | ||
| NM_001316772.1:c.625G>A | NP_001303701.1:p.Val209Ile | |
| NM_002047.2:c.787G>A , LRG_243t1:c.787G>A | NP_002038.2:p.Val263Ile | |
| NM_002047.3:c.787G>A | NP_002038.2:p.Val263Ile | |
| XM_006715686.1:c.418G>A | XP_006715749.1:p.Val140Ile | |
| XM_006715686.2:c.418G>A | XP_006715749.1:p.Val140Ile | |
| NM_002047.4:c.787G>A MANE Select | NP_002038.2:p.Val263Ile |