Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981757C= , CM000674.2:g.48981757C= | GRCh38 |
| NC_000012.11:g.49375540C= , CM000674.1:g.49375540C= | GRCh37 |
| NC_000012.10:g.47661807C= | NCBI36 |
| NG_033141.1:g.8305C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*117C= MANE Select | ENSP00000293549.3:n.*117C= | |
| NM_005430.3:c.*117C= | NP_005421.1:n.*117C= | |
| NM_005430.4:c.*117C= MANE Select | NP_005421.1:n.*117C= |