Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.35204538G>T , CM000669.2:g.35204538G>T | GRCh38 |
| NC_000007.13:g.35244150G>T , CM000669.1:g.35244150G>T | GRCh37 |
| NC_000007.12:g.35210675G>T | NCBI36 |
| NG_015805.1:g.54562C>A , LRG_755:g.54562C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001077653.2:c.935C>A , LRG_755t1:c.935C>A MANE Select | NP_001071121.1:p.Ser312Ter |
| ENST00000408931.4:c.935C>A MANE Select | ENSP00000386170.3:p.Ser312Ter |
| ENST00000408931.3:c.935C>A | ENSP00000386170.3:p.Ser312Ter |
| XM_017012456.1:c.338C>A | XP_016867945.1:p.Ser113Ter |