Linked Data
ClinVar Variation Id:
229112
ClinVar RCV Id:
RCV004017516
dbSNP Id:
rs775349315
ExAC:
12:80613600 G / A
gnomAD v2:
12-80613600-G-A
gnomAD v3:
12-80219820-G-A
gnomAD v4:
12-80219820-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80219820G>A , CM000674.2:g.80219820G>A | GRCh38 |
| NC_000012.11:g.80613600G>A , CM000674.1:g.80613600G>A | GRCh37 |
| NC_000012.10:g.79137731G>A | NCBI36 |
| NG_033008.1:g.15368G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.242G>A MANE Select | ENSP00000447211.2:p.Cys81Tyr | |
| ENST00000643417.1:n.902G>A | ||
| ENST00000646859.1:c.242G>A | ENSP00000496036.1:p.Cys81Tyr | |
| ENST00000458043.6:c.215G>A | ENSP00000400895.2:p.Cys72Tyr | |
| ENST00000547103.5:c.215G>A | ENSP00000447211.1:p.Cys72Tyr | |
| NM_173591.3:c.215G>A | NP_775862.3:p.Cys72Tyr | |
| XM_005268802.2:c.266G>A | XP_005268859.1:p.Cys89Tyr | |
| XM_011538191.1:c.266G>A | XP_011536493.1:p.Cys89Tyr | |
| XM_011538192.1:c.113G>A | XP_011536494.1:p.Cys38Tyr | |
| XM_011538193.1:c.-101G>A | XP_011536495.1:n.-101G>A | |
| XM_005268802.3:c.266G>A | XP_005268859.1:p.Cys89Tyr | |
| XM_011538192.2:c.113G>A | XP_011536494.1:p.Cys38Tyr | |
| NM_001368062.1:c.215G>A | NP_001354991.1:p.Cys72Tyr | |
| NM_001368062.3:c.242G>A | NP_001354991.2:p.Cys81Tyr | |
| NM_001378609.3:c.242G>A MANE Select | NP_001365538.2:p.Cys81Tyr | |
| NM_001378610.3:c.242G>A | NP_001365539.2:p.Cys81Tyr | |
| NM_173591.7:c.242G>A | NP_775862.4:p.Cys81Tyr |