Linked Data
ClinVar Variation Id:
2124674
ClinVar RCV Id:
RCV003039733
dbSNP Id:
rs1305420150
gnomAD v2:
8-77896194-G-A
gnomAD v3:
8-76983958-G-A
gnomAD v4:
8-76983958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983958G>A , CM000670.2:g.76983958G>A | GRCh38 |
| NC_000008.10:g.77896194G>A , CM000670.1:g.77896194G>A | GRCh37 |
| NC_000008.9:g.78058749G>A | NCBI36 |
| NG_008371.1:g.21331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.221C>T MANE Select | ENSP00000349543.4:p.Ala74Val | |
| ENST00000357039.8:c.221C>T | ENSP00000349543.4:p.Ala74Val | |
| ENST00000518986.5:c.221C>T | ENSP00000429304.1:p.Ala74Val | |
| ENST00000520103.5:c.221C>T | ENSP00000428590.1:p.Ala74Val | |
| ENST00000522527.5:c.221C>T | ENSP00000428638.1:p.Ala74Val | |
| NM_000318.2:c.221C>T | NP_000309.1:p.Ala74Val | |
| NM_001079867.1:c.221C>T | NP_001073336.1:p.Ala74Val | |
| NM_001172086.1:c.221C>T | NP_001165557.1:p.Ala74Val | |
| NM_001172087.1:c.221C>T | NP_001165558.1:p.Ala74Val | |
| NM_000318.3:c.221C>T MANE Select | NP_000309.2:p.Ala74Val | |
| NM_001079867.2:c.221C>T | NP_001073336.2:p.Ala74Val | |
| NM_001172086.2:c.221C>T | NP_001165557.2:p.Ala74Val | |
| NM_001172087.2:c.221C>T | NP_001165558.2:p.Ala74Val |