Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130714427T>A , CM000671.2:g.130714427T>A | GRCh38 |
| NC_000009.11:g.133589814T>A , CM000671.1:g.133589814T>A | GRCh37 |
| NC_000009.10:g.132579635T>A | NCBI36 |
| NG_012034.1:g.5547T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.108T>A | ENSP00000361423.2:p.Gly36= | |
| ENST00000372348.7:c.108T>A | ENSP00000361423.2:p.Gly36= | |
| ENST00000372348.6:c.108T>A | ENSP00000361423.2:p.Gly36= | |
| ENST00000393293.4:c.108T>A | ENSP00000376971.4:p.Gly36= | |
| NM_007313.2:c.108T>A | NP_009297.2:p.Gly36= | |
| NM_007313.3:c.108T>A | NP_009297.2:p.Gly36= |