Linked Data
ClinVar Variation Id:
987521
ClinVar RCV Id:
RCV001268947
dbSNP Id:
rs781214178
gnomAD v4:
2-31533727-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533727A>T , CM000664.2:g.31533727A>T | GRCh38 |
| NC_000002.11:g.31758797A>T , CM000664.1:g.31758797A>T | GRCh37 |
| NC_000002.10:g.31612301A>T | NCBI36 |
| NG_008365.1:g.52245T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.321T>A MANE Select | ENSP00000477587.1:p.Tyr107Ter | |
| ENST00000622030.1:c.321T>A | ENSP00000477587.1:p.Tyr107Ter | |
| NM_000348.3:c.321T>A | NP_000339.2:p.Tyr107Ter | |
| XM_011533068.1:c.321T>A | XP_011531370.1:p.Tyr107Ter | |
| XM_011533069.1:c.99T>A | XP_011531371.1:p.Tyr33Ter | |
| XM_011533070.1:c.66T>A | XP_011531372.1:p.Tyr22Ter | |
| XM_011533071.1:c.66T>A | XP_011531373.1:p.Tyr22Ter | |
| XM_011533072.1:c.66T>A | XP_011531374.1:p.Tyr22Ter | |
| XM_011533069.2:c.99T>A | XP_011531371.1:p.Tyr33Ter | |
| XM_011533072.2:c.66T>A | XP_011531374.1:p.Tyr22Ter | |
| NM_000348.4:c.321T>A MANE Select | NP_000339.2:p.Tyr107Ter |