Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81537020C>T , CM000665.2:g.81537020C>T | GRCh38 |
| NC_000003.11:g.81586171C>T , CM000665.1:g.81586171C>T | GRCh37 |
| NC_000003.10:g.81668861C>T | NCBI36 |
| NG_011810.1:g.229781G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1694G>A MANE Select | NP_000149.4:p.Arg565Gln |
| ENST00000429644.7:c.1694G>A MANE Select | ENSP00000410833.2:p.Arg565Gln |
| NM_000158.3:c.1694G>A | NP_000149.3:p.Arg565Gln |
| ENST00000429644.6:c.1694G>A | ENSP00000410833.2:p.Arg565Gln |
| ENST00000484687.1:n.95G>A | |
| ENST00000489715.1:c.1571G>A | ENSP00000419638.1:p.Arg524Gln |