Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57138528G>A , CM000674.2:g.57138528G>A | GRCh38 |
| NC_000012.11:g.57532311G>A , CM000674.1:g.57532311G>A | GRCh37 |
| NC_000012.10:g.55818578G>A | NCBI36 |
| NG_016444.1:g.15030G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.137G>A MANE Select | NP_002323.2:p.Arg46Gln |
| ENST00000243077.8:c.137G>A MANE Select | ENSP00000243077.3:p.Arg46Gln |
| NM_002332.2:c.137G>A | NP_002323.2:p.Arg46Gln |
| ENST00000243077.7:c.137G>A | ENSP00000243077.3:p.Arg46Gln |
| ENST00000338962.8:c.137G>A | ENSP00000341264.4:p.Arg46Gln |
| ENST00000553277.5:c.137G>A | ENSP00000451449.1:p.Arg46Gln |
| ENST00000554174.1:c.137G>A | ENSP00000451737.1:p.Arg46Gln |
| XM_017019303.1:c.137G>A | XP_016874792.1:p.Arg46Gln |