Linked Data
ClinVar Variation Id:
446456
dbSNP Id:
rs763006761
ExAC:
7:107340580 A / G
gnomAD v2:
7-107340580-A-G
gnomAD v4:
7-107700135-A-G
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107700135A>G , CM000669.2:g.107700135A>G | GRCh38 |
| NC_000007.13:g.107340580A>G , CM000669.1:g.107340580A>G | GRCh37 |
| NC_000007.12:g.107127816A>G | NCBI36 |
| NG_008489.1:g.44501A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1667A>G MANE Select | ENSP00000494017.1:p.Tyr556Cys | |
| ENST00000644846.1:c.378A>G | ||
| ENST00000265715.7:c.1667A>G | ENSP00000265715.3:p.Tyr556Cys | |
| ENST00000477350.5:n.514A>G | ||
| ENST00000480841.5:n.516A>G | ||
| ENST00000492030.2:n.50A>G | ||
| NM_000441.1:c.1667A>G | NP_000432.1:p.Tyr556Cys | |
| XM_005250425.1:c.1667A>G | XP_005250482.1:p.Tyr556Cys | |
| XM_005250425.2:c.1667A>G | XP_005250482.1:p.Tyr556Cys | |
| XM_017012318.1:c.1589A>G | XP_016867807.1:p.Tyr530Cys | |
| NM_000441.2:c.1667A>G MANE Select | NP_000432.1:p.Tyr556Cys |