Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981754C>A , CM000674.2:g.48981754C>A | GRCh38 |
| NC_000012.11:g.49375537C>A , CM000674.1:g.49375537C>A | GRCh37 |
| NC_000012.10:g.47661804C>A | NCBI36 |
| NG_033141.1:g.8302C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*114C>A MANE Select | ENSP00000293549.3:n.*114C>A | |
| NM_005430.3:c.*114C>A | NP_005421.1:n.*114C>A | |
| NM_005430.4:c.*114C>A MANE Select | NP_005421.1:n.*114C>A |