Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15444662G>A , CM000663.2:g.15444662G>A | GRCh38 |
| NC_000001.10:g.15771157G>A , CM000663.1:g.15771157G>A | GRCh37 |
| NC_000001.9:g.15643744G>A | NCBI36 |
| NG_009253.1:g.11220G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.550G>A MANE Select | NP_009203.2:p.Ala184Thr |
| ENST00000375949.5:c.550G>A MANE Select | ENSP00000365116.4:p.Ala184Thr |
| NM_007272.2:c.550G>A | NP_009203.2:p.Ala184Thr |
| ENST00000375943.6:c.*94-935G>A | ENSP00000365110.2:n.*94-935G>A |
| ENST00000375949.4:c.550G>A | ENSP00000365116.4:p.Ala184Thr |
| ENST00000483406.1:n.404-935G>A | |
| XM_011540550.1:c.494-935G>A | XP_011538852.1:n.494-935G>A |