Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53982745G>A , CM000681.2:g.53982745G>A | GRCh38 |
| NC_000019.9:g.54485999G>A , CM000681.1:g.54485999G>A | GRCh37 |
| NC_000019.8:g.59177811G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031895.6:c.1174G>A MANE Select | NP_114101.4:p.Ala392Thr |
| ENST00000270458.4:c.1174G>A MANE Select | ENSP00000270458.3:p.Ala392Thr |
| NM_031895.5:c.1174G>A | NP_114101.4:p.Ala392Thr |
| ENST00000270458.2:c.1174G>A | ENSP00000270458.2:p.Ala392Thr |