Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32165835G>A , CM000665.2:g.32165835G>A | GRCh38 |
| NC_000003.11:g.32207327G>A , CM000665.1:g.32207327G>A | GRCh37 |
| NC_000003.10:g.32182331G>A | NCBI36 |
| NG_023375.1:g.64325G>A , LRG_419:g.64325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282541.10:c.981G>A MANE Select | ENSP00000282541.6:p.Val327= | |
| ENST00000282541.9:c.981G>A | ENSP00000282541.5:p.Val327= | |
| ENST00000474846.5:n.905G>A | ||
| ENST00000496151.1:n.482G>A | ||
| NM_015141.3:c.981G>A , LRG_419t1:c.981G>A | NP_055956.1:p.Val327= | |
| XM_005264983.2:c.747G>A | XP_005265040.1:p.Val249= | |
| XM_006713068.2:c.840G>A | XP_006713131.1:p.Val280= | |
| NM_015141.4:c.981G>A MANE Select | NP_055956.1:p.Val327= |