Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101253766C>T , CM000665.2:g.101253766C>T | GRCh38 |
| NC_000003.11:g.100972610C>T , CM000665.1:g.100972610C>T | GRCh37 |
| NC_000003.10:g.102455300C>T | NCBI36 |
| NG_028284.1:g.71810G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.1169G>A MANE Select | NP_057331.2:p.Arg390His |
| ENST00000193391.8:c.1169G>A MANE Select | ENSP00000193391.6:p.Arg390His |
| NM_016247.3:c.1169G>A | NP_057331.2:p.Arg390His |
| ENST00000193391.7:c.1169G>A | ENSP00000193391.6:p.Arg390His |
| XM_011512871.1:c.875G>A | XP_011511173.1:p.Arg292His |
| XM_011512872.1:c.758G>A | XP_011511174.1:p.Arg253His |