Linked Data
ClinVar Variation Id:
6875
dbSNP Id:
rs267606918
ExAC:
19:36333323 C / T
gnomAD v2:
19-36333323-C-T
gnomAD v3:
19-35842421-C-T
gnomAD v4:
19-35842421-C-T
PubMed:
PMID:17290294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842421C>T , CM000681.2:g.35842421C>T | GRCh38 |
| NC_000019.9:g.36333323C>T , CM000681.1:g.36333323C>T | GRCh37 |
| NC_000019.8:g.41025163C>T | NCBI36 |
| NG_013356.2:g.31867G>A , LRG_693:g.31867G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.2464G>A MANE Select | ENSP00000368190.4:p.Val822Met | |
| ENST00000353632.6:c.2464G>A | ENSP00000343634.5:p.Val822Met | |
| ENST00000378910.9:c.2464G>A | ENSP00000368190.4:p.Val822Met | |
| NM_004646.3:c.2464G>A , LRG_693t1:c.2464G>A | NP_004637.1:p.Val822Met | |
| NM_004646.4:c.2464G>A MANE Select | NP_004637.1:p.Val822Met |