Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81642878C>A , CM000665.2:g.81642878C>A | GRCh38 |
| NC_000003.11:g.81692029C>A , CM000665.1:g.81692029C>A | GRCh37 |
| NC_000003.10:g.81774719C>A | NCBI36 |
| NG_011810.1:g.123923G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.895G>T MANE Select | NP_000149.4:p.Gly299Ter |
| ENST00000429644.7:c.895G>T MANE Select | ENSP00000410833.2:p.Gly299Ter |
| NM_000158.3:c.895G>T | NP_000149.3:p.Gly299Ter |
| ENST00000429644.6:c.895G>T | ENSP00000410833.2:p.Gly299Ter |
| ENST00000489715.1:c.772G>T | ENSP00000419638.1:p.Gly258Ter |
| ENST00000498468.1:n.445G>T |