Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81642988C>T , CM000665.2:g.81642988C>T | GRCh38 |
| NC_000003.11:g.81692139C>T , CM000665.1:g.81692139C>T | GRCh37 |
| NC_000003.10:g.81774829C>T | NCBI36 |
| NG_011810.1:g.123813G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.785G>A MANE Select | NP_000149.4:p.Arg262His |
| ENST00000429644.7:c.785G>A MANE Select | ENSP00000410833.2:p.Arg262His |
| NM_000158.3:c.785G>A | NP_000149.3:p.Arg262His |
| ENST00000429644.6:c.785G>A | ENSP00000410833.2:p.Arg262His |
| ENST00000489715.1:c.662G>A | ENSP00000419638.1:p.Arg221His |
| ENST00000498468.1:n.335G>A |