Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179454G>A , CM000678.2:g.89179454G>A | GRCh38 |
| NC_000016.9:g.89245862G>A , CM000678.1:g.89245862G>A | GRCh37 |
| NC_000016.8:g.87773363G>A | NCBI36 |
| NG_012055.1:g.12700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.81G>A MANE Select | ENSP00000289746.2:p.Arg27= | |
| ENST00000289746.2:c.81G>A | ENSP00000289746.2:p.Arg27= | |
| ENST00000521087.5:n.146G>A | ||
| ENST00000524089.1:n.146G>A | ||
| NM_004933.2:c.81G>A | NP_004924.1:p.Arg27= | |
| XM_011522806.1:c.81G>A | XP_011521108.1:p.Arg27= | |
| NM_004933.3:c.81G>A MANE Select | NP_004924.1:p.Arg27= |