Linked Data
gnomAD v4:
1-212883434-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883434A>G , CM000663.2:g.212883434A>G | GRCh38 |
| NC_000001.10:g.213056776A>G , CM000663.1:g.213056776A>G | GRCh37 |
| NC_000001.9:g.211123399A>G | NCBI36 |
| NG_028131.1:g.30180A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1088A>G MANE Select | ENSP00000355938.4:p.Tyr363Cys | |
| ENST00000366971.8:c.1088A>G | ENSP00000355938.4:p.Tyr363Cys | |
| ENST00000419102.1:c.484A>G | ||
| ENST00000474693.1:n.313A>G | ||
| ENST00000483790.1:n.26A>G | ||
| NM_014053.3:c.1088A>G | NP_054772.1:p.Tyr363Cys | |
| XM_011509446.1:c.1088A>G | XP_011507748.1:p.Tyr363Cys | |
| XR_247024.1:n.1262A>G | ||
| XR_426771.1:n.1389A>G | ||
| XM_011509446.3:c.1088A>G | XP_011507748.1:p.Tyr363Cys | |
| XR_247024.3:n.1262A>G | ||
| NM_014053.4:c.1088A>G MANE Select | NP_054772.1:p.Tyr363Cys |