Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191795C>A , CM000681.2:g.15191795C>A | GRCh38 |
| NC_000019.9:g.15302606C>A , CM000681.1:g.15302606C>A | GRCh37 |
| NC_000019.8:g.15163606C>A | NCBI36 |
| NG_009819.1:g.14187G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.752G>T MANE Select | ENSP00000263388.1:p.Cys251Phe | |
| ENST00000263388.6:c.752G>T | ENSP00000263388.1:p.Cys251Phe | |
| ENST00000601011.1:c.749G>T | ENSP00000473138.1:p.Cys250Phe | |
| NM_000435.2:c.752G>T | NP_000426.2:p.Cys251Phe | |
| XM_005259924.3:c.752G>T | XP_005259981.1:p.Cys251Phe | |
| XM_005259924.4:c.752G>T | XP_005259981.1:p.Cys251Phe | |
| NM_000435.3:c.752G>T MANE Select | NP_000426.2:p.Cys251Phe |