Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450196C>A , CM000674.2:g.57450196C>A | GRCh38 |
| NC_000012.11:g.57843979C>A , CM000674.1:g.57843979C>A | GRCh37 |
| NC_000012.10:g.56130246C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309668.3:c.*174C>A MANE Select | ENSP00000308716.2:n.*174C>A | |
| ENST00000309668.2:c.*174C>A | ENSP00000308716.2:n.*174C>A | |
| NM_005538.3:c.*174C>A | NP_005529.1:n.*174C>A | |
| NM_005538.4:c.*174C>A MANE Select | NP_005529.1:n.*174C>A |