Linked Data
ClinVar Variation Id:
6309
ClinVar RCV Id:
RCV000006689
dbSNP Id:
rs121908651
PubMed:
PMID:18179883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22121549G>A , CM000663.2:g.22121549G>A | GRCh38 |
| NC_000001.10:g.22448042G>A , CM000663.1:g.22448042G>A | GRCh37 |
| NC_000001.9:g.22320629G>A | NCBI36 |
| NG_008974.1:g.26478C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290167.11:c.341C>T MANE Select | ENSP00000290167.5:p.Ala114Val | |
| ENST00000290167.10:c.341C>T | ENSP00000290167.5:p.Ala114Val | |
| NM_030761.4:c.341C>T | NP_110388.2:p.Ala114Val | |
| XM_011541597.1:c.407C>T | XP_011539899.1:p.Ala136Val | |
| XM_011541598.1:c.176C>T | XP_011539900.1:p.Ala59Val | |
| XM_011541597.2:c.407C>T | XP_011539899.1:p.Ala136Val | |
| XM_011541598.2:c.176C>T | XP_011539900.1:p.Ala59Val | |
| NM_030761.5:c.341C>T MANE Select | NP_110388.2:p.Ala114Val |