Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981756G>A , CM000674.2:g.48981756G>A | GRCh38 |
| NC_000012.11:g.49375539G>A , CM000674.1:g.49375539G>A | GRCh37 |
| NC_000012.10:g.47661806G>A | NCBI36 |
| NG_033141.1:g.8304G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.*116G>A MANE Select | NP_005421.1:n.*116G>A |
| ENST00000293549.4:c.*116G>A MANE Select | ENSP00000293549.3:n.*116G>A |
| NM_005430.3:c.*116G>A | NP_005421.1:n.*116G>A |