Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578034T>A , CM000671.2:g.98578034T>A | GRCh38 |
| NC_000009.11:g.101340316T>A , CM000671.1:g.101340316T>A | GRCh37 |
| NC_000009.10:g.100380137T>A | NCBI36 |
| NG_016426.1:g.136164A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005458.8:c.360A>T MANE Select | NP_005449.5:p.Ala120= |
| ENST00000259455.4:c.360A>T MANE Select | ENSP00000259455.2:p.Ala120= |
| NM_005458.7:c.360A>T | NP_005449.5:p.Ala120= |
| ENST00000259455.3:c.360A>T | ENSP00000259455.2:p.Ala120= |
| ENST00000634227.1:n.134A>T | |
| ENST00000637410.1:n.138A>T | |
| ENST00000637717.1:c.-25A>T | ENSP00000490789.1:n.-25A>T |