Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832716C>A , CM000664.2:g.112832716C>A | GRCh38 |
| NC_000002.11:g.113590293C>A , CM000664.1:g.113590293C>A | GRCh37 |
| NC_000002.10:g.113306764C>A | NCBI36 |
| NG_008851.1:g.9064G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.412G>T MANE Select | ENSP00000263341.2:p.Gly138Cys | |
| ENST00000263341.6:c.412G>T | ENSP00000263341.2:p.Gly138Cys | |
| ENST00000418817.5:c.412G>T | ENSP00000407219.1:p.Gly138Cys | |
| ENST00000487639.1:n.313G>T | ||
| ENST00000491056.5:n.1219G>T | ||
| NM_000576.2:c.412G>T | NP_000567.1:p.Gly138Cys | |
| XM_006712496.1:c.178G>T | XP_006712559.1:p.Gly60Cys | |
| XM_017003988.2:c.319G>T | XP_016859477.1:p.Gly107Cys | |
| NM_000576.3:c.412G>T MANE Select | NP_000567.1:p.Gly138Cys |