Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45529086T>A , CM000681.2:g.45529086T>A | GRCh38 |
| NC_000019.9:g.46032344T>A , CM000681.1:g.46032344T>A | GRCh37 |
| NC_000019.8:g.50724184T>A | NCBI36 |
| NG_013332.1:g.60779A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017989.2:c.513A>T | NP_001017989.2:p.Ala171= |
| NM_001017989.3:c.513A>T | NP_001017989.2:p.Ala171= |
| ENST00000323060.3:c.513A>T | ENSP00000319817.3:p.Ala171= |
| ENST00000323060.4:c.513A>T | ENSP00000319817.3:p.Ala171= |
| XM_011527348.1:c.354A>T | XP_011525650.1:p.Ala118= |