Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280934T>A , CM000679.2:g.58280934T>A | GRCh38 |
| NC_000017.10:g.56358295T>A , CM000679.1:g.56358295T>A | GRCh37 |
| NC_000017.9:g.53713294T>A | NCBI36 |
| NG_009629.1:g.5002A>T , LRG_84:g.5002A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225275.4:c.-176A>T MANE Select | ENSP00000225275.3:n.-176A>T | |
| ENST00000225275.3:c.-176A>T | ENSP00000225275.3:n.-176A>T | |
| NM_000250.1:c.-176A>T , LRG_84t1:c.-176A>T | NP_000241.1:n.-176A>T | |
| XM_011524821.1:c.206A>T | XP_011523123.1:p.Asp69Val | |
| XM_011524823.1:c.206A>T | XP_011523125.1:p.Asp69Val | |
| NM_000250.2:c.-176A>T MANE Select | NP_000241.1:n.-176A>T |