Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57194650G>A , CM000674.2:g.57194650G>A | GRCh38 |
| NC_000012.11:g.57588433G>A , CM000674.1:g.57588433G>A | GRCh37 |
| NC_000012.10:g.55874700G>A | NCBI36 |
| NG_016444.1:g.71152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243077.8:c.8142G>A MANE Select | ENSP00000243077.3:p.Thr2714= | |
| ENST00000243077.7:c.8142G>A | ENSP00000243077.3:p.Thr2714= | |
| NM_002332.2:c.8142G>A | NP_002323.2:p.Thr2714= | |
| XM_017019303.1:c.8193G>A | XP_016874792.1:p.Thr2731= | |
| NM_002332.3:c.8142G>A MANE Select | NP_002323.2:p.Thr2714= |