Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450166C= , CM000674.2:g.57450166C= | GRCh38 |
| NC_000012.11:g.57843949C= , CM000674.1:g.57843949C= | GRCh37 |
| NC_000012.10:g.56130216C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309668.3:c.*144C= MANE Select | ENSP00000308716.2:n.*144C= | |
| ENST00000309668.2:c.*144C= | ENSP00000308716.2:n.*144C= | |
| NM_005538.3:c.*144C= | NP_005529.1:n.*144C= | |
| NM_005538.4:c.*144C= MANE Select | NP_005529.1:n.*144C= |