Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132060785C>A , CM000667.2:g.132060785C>A | GRCh38 |
| NC_000005.9:g.131396478C>A , CM000667.1:g.131396478C>A | GRCh37 |
| NC_000005.8:g.131424377C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000588.4:c.79C>A MANE Select | NP_000579.2:p.Pro27Thr |
| ENST00000296870.3:c.79C>A MANE Select | ENSP00000296870.2:p.Pro27Thr |
| NM_000588.3:c.79C>A | NP_000579.2:p.Pro27Thr |
| ENST00000296870.2:c.79C>A | ENSP00000296870.2:p.Pro27Thr |
| XR_001742531.1:n.243+686G>T | |
| XR_948784.1:n.228+686G>T | |
| XR_948784.2:n.251+686G>T | |
| XR_948785.1:n.228+686G>T | |
| XR_948785.2:n.251+686G>T | |
| XR_948786.1:n.211+686G>T |