Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445642T= , CM000663.2:g.15445642T= | GRCh38 |
| NC_000001.10:g.15772137T= , CM000663.1:g.15772137T= | GRCh37 |
| NC_000001.9:g.15644724T= | NCBI36 |
| NG_009253.1:g.12200T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.685T= MANE Select | ENSP00000365116.4:p.Trp229= | |
| ENST00000375943.6:c.*139T= | ENSP00000365110.2:n.*139T= | |
| ENST00000375949.4:c.685T= | ENSP00000365116.4:p.Trp229= | |
| ENST00000483406.1:n.449T= | ||
| NM_007272.2:c.685T= | NP_009203.2:p.Trp229= | |
| XM_011540550.1:c.539T= | XP_011538852.1:p.Leu180= | |
| NM_007272.3:c.685T= MANE Select | NP_009203.2:p.Trp229= |