Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450197A>C , CM000674.2:g.57450197A>C | GRCh38 |
| NC_000012.11:g.57843980A>C , CM000674.1:g.57843980A>C | GRCh37 |
| NC_000012.10:g.56130247A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309668.3:c.*175A>C MANE Select | ENSP00000308716.2:n.*175A>C | |
| ENST00000309668.2:c.*175A>C | ENSP00000308716.2:n.*175A>C | |
| NM_005538.3:c.*175A>C | NP_005529.1:n.*175A>C | |
| NM_005538.4:c.*175A>C MANE Select | NP_005529.1:n.*175A>C |