Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565434T>C , CM000664.2:g.189565434T>C | GRCh38 |
| NC_000002.11:g.190430160T>C , CM000664.1:g.190430160T>C | GRCh37 |
| NC_000002.10:g.190138405T>C | NCBI36 |
| NG_009027.1:g.20378A>G , LRG_837:g.20378A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.680A>G MANE Select | ENSP00000261024.3:p.Tyr227Cys | |
| ENST00000261024.6:c.680A>G | ENSP00000261024.2:p.Tyr227Cys | |
| NM_014585.5:c.680A>G , LRG_837t1:c.680A>G | NP_055400.1:p.Tyr227Cys | |
| XM_005246505.1:c.560A>G | XP_005246562.1:p.Tyr187Cys | |
| XM_005246505.2:c.560A>G | XP_005246562.1:p.Tyr187Cys | |
| XM_017003938.2:c.560A>G | XP_016859427.1:p.Tyr187Cys | |
| NM_014585.6:c.680A>G MANE Select | NP_055400.1:p.Tyr227Cys |