Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445710C= , CM000663.2:g.15445710C= | GRCh38 |
| NC_000001.10:g.15772205C= , CM000663.1:g.15772205C= | GRCh37 |
| NC_000001.9:g.15644792C= | NCBI36 |
| NG_009253.1:g.12268C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.753C= MANE Select | ENSP00000365116.4:p.Val251= | |
| ENST00000375943.6:c.*207C= | ENSP00000365110.2:n.*207C= | |
| ENST00000375949.4:c.753C= | ENSP00000365116.4:p.Val251= | |
| ENST00000483406.1:n.517C= | ||
| NM_007272.2:c.753C= | NP_009203.2:p.Val251= | |
| XM_011540550.1:c.607C= | XP_011538852.1:p.Leu203= | |
| NM_007272.3:c.753C= MANE Select | NP_009203.2:p.Val251= |