Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450190C= , CM000674.2:g.57450190C= | GRCh38 |
| NC_000012.11:g.57843973C= , CM000674.1:g.57843973C= | GRCh37 |
| NC_000012.10:g.56130240C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309668.3:c.*168C= MANE Select | ENSP00000308716.2:n.*168C= | |
| ENST00000309668.2:c.*168C= | ENSP00000308716.2:n.*168C= | |
| NM_005538.3:c.*168C= | NP_005529.1:n.*168C= | |
| NM_005538.4:c.*168C= MANE Select | NP_005529.1:n.*168C= |