Linked Data
ClinVar Variation Id:
440485
ClinVar RCV Id:
RCV000508957
dbSNP Id:
rs1553323036
gnomAD v4:
2-31526236-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31526236T>C , CM000664.2:g.31526236T>C | GRCh38 |
| NC_000002.11:g.31751306T>C , CM000664.1:g.31751306T>C | GRCh37 |
| NC_000002.10:g.31604810T>C | NCBI36 |
| NG_008365.1:g.59736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.725A>G MANE Select | ENSP00000477587.1:p.Tyr242Cys | |
| ENST00000622030.1:c.725A>G | ENSP00000477587.1:p.Tyr242Cys | |
| NM_000348.3:c.725A>G | NP_000339.2:p.Tyr242Cys | |
| XM_011533069.1:c.503A>G | XP_011531371.1:p.Tyr168Cys | |
| XM_011533070.1:c.470A>G | XP_011531372.1:p.Tyr157Cys | |
| XM_011533071.1:c.470A>G | XP_011531373.1:p.Tyr157Cys | |
| XM_011533072.1:c.470A>G | XP_011531374.1:p.Tyr157Cys | |
| XM_011533069.2:c.503A>G | XP_011531371.1:p.Tyr168Cys | |
| XM_011533072.2:c.470A>G | XP_011531374.1:p.Tyr157Cys | |
| NM_000348.4:c.725A>G MANE Select | NP_000339.2:p.Tyr242Cys |