Linked Data
ClinVar Variation Id:
3057120
ClinVar RCV Id:
RCV003964472
dbSNP Id:
rs11538264
ExAC:
6:31603189 G / A
gnomAD v2:
6-31603189-G-A
gnomAD v3:
6-31635412-G-A
gnomAD v4:
6-31635412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635412G>A , CM000668.2:g.31635412G>A | GRCh38 |
| NC_000006.11:g.31603189G>A , CM000668.1:g.31603189G>A | GRCh37 |
| NC_000006.10:g.31711168G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376033.3:c.5320G>A MANE Select | ENSP00000365201.2:p.Val1774Met | |
| ENST00000376007.8:c.5320G>A | ENSP00000365175.4:p.Val1774Met | |
| ENST00000376033.2:c.5320G>A | ENSP00000365201.2:p.Val1774Met | |
| ENST00000469501.1:n.50G>A | ||
| ENST00000487089.1:n.53G>A | ||
| ENST00000487839.1:n.37G>A | ||
| NM_004638.3:c.5320G>A | NP_004629.3:p.Val1774Met | |
| NM_080686.2:c.5320G>A | NP_542417.2:p.Val1774Met | |
| XM_011514890.1:c.5320G>A | XP_011513192.1:p.Val1774Met | |
| XM_017011274.1:c.5320G>A | XP_016866763.1:p.Val1774Met | |
| NM_004638.4:c.5320G>A MANE Select | NP_004629.3:p.Val1774Met | |
| NM_080686.3:c.5320G>A | NP_542417.2:p.Val1774Met |