Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.16598098A>T , CM000665.2:g.16598098A>T | GRCh38 |
| NC_000003.11:g.16639605A>T , CM000665.1:g.16639605A>T | GRCh37 |
| NC_000003.10:g.16614609A>T | NCBI36 |
| NG_023329.1:g.12402T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001351.4:c.231T>A MANE Select | NP_001342.2:p.Gly77= |
| ENST00000399444.7:c.231T>A MANE Select | ENSP00000382373.3:p.Gly77= |
| NM_001190811.1:c.291T>A | NP_001177740.1:p.Gly97= |
| NM_001190811.2:c.291T>A | NP_001177740.1:p.Gly97= |
| NM_001351.3:c.231T>A | NP_001342.2:p.Gly77= |
| ENST00000250863.12:c.291T>A | ENSP00000250863.8:p.Gly97= |
| ENST00000399444.6:c.231T>A | ENSP00000382373.2:p.Gly77= |
| ENST00000454457.1:c.345T>A | ENSP00000398109.1:p.Gly115= |