Linked Data
ClinVar Variation Id:
16988
ClinVar RCV Id:
RCV000018509
dbSNP Id:
rs28931601
PubMed:
PMID:15108203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447133G>A , CM000668.2:g.121447133G>A | GRCh38 |
| NC_000006.11:g.121768279G>A , CM000668.1:g.121768279G>A | GRCh37 |
| NC_000006.10:g.121809978G>A | NCBI36 |
| NG_008308.1:g.16535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.286G>A MANE Select | ENSP00000282561.3:p.Val96Met | |
| ENST00000647564.1:c.286G>A | ENSP00000497565.1:p.Val96Met | |
| ENST00000649003.1:c.286G>A | ENSP00000497283.1:p.Val96Met | |
| ENST00000650427.1:c.286G>A | ENSP00000497367.1:p.Val96Met | |
| ENST00000282561.3:c.286G>A | ENSP00000282561.3:p.Val96Met | |
| NM_000165.4:c.286G>A | NP_000156.1:p.Val96Met | |
| NM_000165.5:c.286G>A MANE Select | NP_000156.1:p.Val96Met |