Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440345G>A , CM000663.2:g.15440345G>A | GRCh38 |
| NC_000001.10:g.15766841G>A , CM000663.1:g.15766841G>A | GRCh37 |
| NC_000001.9:g.15639428G>A | NCBI36 |
| NG_009253.1:g.6904G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.86G>A MANE Select | NP_009203.2:p.Arg29Gln |
| ENST00000375949.5:c.86G>A MANE Select | ENSP00000365116.4:p.Arg29Gln |
| NM_007272.2:c.86G>A | NP_009203.2:p.Arg29Gln |
| ENST00000375943.6:c.40+1841G>A | ENSP00000365110.2:n.40+1841G>A |
| ENST00000375949.4:c.86G>A | ENSP00000365116.4:p.Arg29Gln |
| ENST00000476813.5:n.52+1841G>A | |
| XM_011540550.1:c.86G>A | XP_011538852.1:p.Arg29Gln |