Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440368C>T , CM000663.2:g.15440368C>T | GRCh38 |
| NC_000001.10:g.15766864C>T , CM000663.1:g.15766864C>T | GRCh37 |
| NC_000001.9:g.15639451C>T | NCBI36 |
| NG_009253.1:g.6927C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.109C>T MANE Select | NP_009203.2:p.Arg37Trp |
| ENST00000375949.5:c.109C>T MANE Select | ENSP00000365116.4:p.Arg37Trp |
| NM_007272.2:c.109C>T | NP_009203.2:p.Arg37Trp |
| ENST00000375943.6:c.40+1864C>T | ENSP00000365110.2:n.40+1864C>T |
| ENST00000375949.4:c.109C>T | ENSP00000365116.4:p.Arg37Trp |
| ENST00000476813.5:n.52+1864C>T | |
| ENST00000483406.1:n.19C>T | |
| XM_011540550.1:c.109C>T | XP_011538852.1:p.Arg37Trp |