Linked Data
ClinVar Variation Id:
492902
ClinVar RCV Id:
RCV000581936
dbSNP Id:
rs1200261940
gnomAD v2:
2-31756454-G-T
gnomAD v3:
2-31531384-G-T
gnomAD v4:
2-31531384-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531384G>T , CM000664.2:g.31531384G>T | GRCh38 |
| NC_000002.11:g.31756454G>T , CM000664.1:g.31756454G>T | GRCh37 |
| NC_000002.10:g.31609958G>T | NCBI36 |
| NG_008365.1:g.54588C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.534C>A MANE Select | ENSP00000477587.1:p.Tyr178Ter | |
| ENST00000622030.1:c.534C>A | ENSP00000477587.1:p.Tyr178Ter | |
| NM_000348.3:c.534C>A | NP_000339.2:p.Tyr178Ter | |
| XM_011533069.1:c.312C>A | XP_011531371.1:p.Tyr104Ter | |
| XM_011533070.1:c.279C>A | XP_011531372.1:p.Tyr93Ter | |
| XM_011533071.1:c.279C>A | XP_011531373.1:p.Tyr93Ter | |
| XM_011533072.1:c.279C>A | XP_011531374.1:p.Tyr93Ter | |
| XM_011533069.2:c.312C>A | XP_011531371.1:p.Tyr104Ter | |
| XM_011533072.2:c.279C>A | XP_011531374.1:p.Tyr93Ter | |
| NM_000348.4:c.534C>A MANE Select | NP_000339.2:p.Tyr178Ter |