Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117080C>A , CM000669.2:g.19117080C>A | GRCh38 |
| NC_000007.13:g.19156703C>A , CM000669.1:g.19156703C>A | GRCh37 |
| NC_000007.12:g.19123228C>A | NCBI36 |
| NG_008114.1:g.5593G>T | |
| NG_008114.2:g.5593G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.242G>T MANE Select | ENSP00000242261.5:p.Cys81Phe | |
| ENST00000242261.5:c.242G>T | ENSP00000242261.5:p.Cys81Phe | |
| ENST00000354571.5:c.39G>T | ||
| NM_000474.3:c.242G>T | NP_000465.1:p.Cys81Phe | |
| XM_011515496.1:c.242G>T | XP_011513798.1:p.Cys81Phe | |
| NR_149001.1:n.593G>T | ||
| NM_000474.4:c.242G>T MANE Select | NP_000465.1:p.Cys81Phe | |
| NR_149001.2:n.557G>T |