Linked Data
ClinVar Variation Id:
38885
ClinVar RCV Id:
RCV000032134
dbSNP Id:
rs201984177
ExAC:
3:136016892 G / A
gnomAD v2:
3-136016892-G-A
gnomAD v3:
3-136298050-G-A
gnomAD v4:
3-136298050-G-A
PubMed:
PMID:22593918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136298050G>A , CM000665.2:g.136298050G>A | GRCh38 |
| NC_000003.11:g.136016892G>A , CM000665.1:g.136016892G>A | GRCh37 |
| NC_000003.10:g.137499582G>A | NCBI36 |
| NG_008939.1:g.52726G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251654.9:c.862G>A MANE Select | ENSP00000251654.4:p.Val288Ile | |
| ENST00000251654.8:c.862G>A | ENSP00000251654.4:p.Val288Ile | |
| ENST00000462637.5:c.793G>A | ENSP00000420391.1:p.Val265Ile | |
| ENST00000466072.5:c.862G>A | ENSP00000420158.1:p.Val288Ile | |
| ENST00000468777.5:c.955G>A | ENSP00000419129.1:p.Val319Ile | |
| ENST00000469217.5:c.922G>A | ENSP00000419027.1:p.Val308Ile | |
| ENST00000471595.5:c.862G>A | ENSP00000417549.1:p.Val288Ile | |
| ENST00000473073.1:n.819G>A | ||
| ENST00000474833.5:n.487G>A | ||
| ENST00000475214.5:n.776G>A | ||
| ENST00000478469.5:c.862G>A | ENSP00000420759.1:p.Val288Ile | |
| ENST00000482086.5:c.514G>A | ENSP00000417253.1:p.Val172Ile | |
| ENST00000483687.5:c.805G>A | ENSP00000420639.1:p.Val269Ile | |
| ENST00000484181.5:c.862G>A | ENSP00000417937.1:p.Val288Ile | |
| ENST00000490504.5:c.691G>A | ENSP00000418307.1:p.Val231Ile | |
| NM_000532.4:c.862G>A | NP_000523.2:p.Val288Ile | |
| NM_001178014.1:c.922G>A | NP_001171485.1:p.Val308Ile | |
| XM_011512873.1:c.862G>A | XP_011511175.1:p.Val288Ile | |
| XM_011512873.2:c.862G>A | XP_011511175.1:p.Val288Ile | |
| NM_000532.5:c.862G>A MANE Select | NP_000523.2:p.Val288Ile | |
| NM_001178014.2:c.922G>A | NP_001171485.1:p.Val308Ile |