Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445611C= , CM000663.2:g.15445611C= | GRCh38 |
| NC_000001.10:g.15772106C= , CM000663.1:g.15772106C= | GRCh37 |
| NC_000001.9:g.15644693C= | NCBI36 |
| NG_009253.1:g.12169C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.654C= MANE Select | ENSP00000365116.4:p.Gly218= | |
| ENST00000375943.6:c.*108C= | ENSP00000365110.2:n.*108C= | |
| ENST00000375949.4:c.654C= | ENSP00000365116.4:p.Gly218= | |
| ENST00000483406.1:n.418C= | ||
| NM_007272.2:c.654C= | NP_009203.2:p.Gly218= | |
| XM_011540550.1:c.508C= | XP_011538852.1:p.Pro170= | |
| NM_007272.3:c.654C= MANE Select | NP_009203.2:p.Gly218= |