Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57197088A>G , CM000674.2:g.57197088A>G | GRCh38 |
| NC_000012.11:g.57590871A>G , CM000674.1:g.57590871A>G | GRCh37 |
| NC_000012.10:g.55877138A>G | NCBI36 |
| NG_016444.1:g.73590A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.8999A>G MANE Select | NP_002323.2:p.His3000Arg |
| ENST00000243077.8:c.8999A>G MANE Select | ENSP00000243077.3:p.His3000Arg |
| NM_002332.2:c.8999A>G | NP_002323.2:p.His3000Arg |
| ENST00000243077.7:c.8999A>G | ENSP00000243077.3:p.His3000Arg |
| XM_017019303.1:c.9050A>G | XP_016874792.1:p.His3017Arg |