Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165065373C>T , CM000665.2:g.165065373C>T | GRCh38 |
| NC_000003.11:g.164783161C>T , CM000665.1:g.164783161C>T | GRCh37 |
| NC_000003.10:g.166265855C>T | NCBI36 |
| NG_017043.1:g.18123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.695G>A MANE Select | ENSP00000264382.3:p.Arg232His | |
| ENST00000264382.7:c.695G>A | ENSP00000264382.3:p.Arg232His | |
| NM_001041.3:c.695G>A | NP_001032.2:p.Arg232His | |
| XM_011513078.1:c.596G>A | XP_011511380.1:p.Arg199His | |
| XM_011513078.2:c.596G>A | XP_011511380.1:p.Arg199His | |
| NM_001041.4:c.695G>A MANE Select | NP_001032.2:p.Arg232His |