Linked Data
ClinVar Variation Id:
158573
dbSNP Id:
rs146312522
gnomAD v2:
8-27646407-G-A
gnomAD v3:
8-27788890-G-A
gnomAD v4:
8-27788890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27788890G>A , CM000670.2:g.27788890G>A | GRCh38 |
| NC_000008.10:g.27646407G>A , CM000670.1:g.27646407G>A | GRCh37 |
| NC_000008.9:g.27702326G>A | NCBI36 |
| NG_008117.1:g.19350G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305188.13:c.1175G>A MANE Select | ENSP00000306999.8:p.Cys392Tyr | |
| ENST00000305188.12:c.1175G>A | ENSP00000306999.8:p.Cys392Tyr | |
| ENST00000397418.4:c.119G>A | ENSP00000380563.2:p.Cys40Tyr | |
| ENST00000518262.5:c.289G>A | ||
| ENST00000522378.5:c.*150G>A | ENSP00000428928.1:n.*150G>A | |
| NM_001017420.2:c.1175G>A | NP_001017420.1:p.Cys392Tyr | |
| XM_011544421.1:c.1175G>A | XP_011542723.1:p.Cys392Tyr | |
| XM_011544422.1:c.1175G>A | XP_011542724.1:p.Cys392Tyr | |
| XR_949378.1:n.1259G>A | ||
| XR_949379.1:n.1259G>A | ||
| XM_011544421.2:c.1175G>A | XP_011542723.1:p.Cys392Tyr | |
| XM_011544422.2:c.1175G>A | XP_011542724.1:p.Cys392Tyr | |
| XR_949378.3:n.1259G>A | ||
| NM_001017420.3:c.1175G>A MANE Select | NP_001017420.1:p.Cys392Tyr |