Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30969071G>A , CM000669.2:g.30969071G>A | GRCh38 |
| NC_000007.13:g.31008686G>A , CM000669.1:g.31008686G>A | GRCh37 |
| NC_000007.12:g.30975211G>A | NCBI36 |
| NG_021416.1:g.10051G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.169G>A MANE Select | ENSP00000320180.2:p.Ala57Thr | |
| ENST00000326139.6:c.169G>A | ENSP00000320180.2:p.Ala57Thr | |
| NM_000823.3:c.169G>A | NP_000814.2:p.Ala57Thr | |
| NM_000823.4:c.169G>A MANE Select | NP_000814.2:p.Ala57Thr |