Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24414681G>A , CM000676.2:g.24414681G>A | GRCh38 |
| NC_000014.8:g.24883887G>A , CM000676.1:g.24883887G>A | GRCh37 |
| NC_000014.7:g.23953727G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025081.3:c.2932G>A MANE Select | NP_079357.2:p.Ala978Thr |
| ENST00000382554.4:c.2932G>A MANE Select | ENSP00000371994.3:p.Ala978Thr |
| NM_025081.2:c.2932G>A | NP_079357.2:p.Ala978Thr |
| ENST00000382554.3:c.2932G>A | ENSP00000371994.3:p.Ala978Thr |
| ENST00000554505.1:n.388G>A | |
| XM_011537016.1:c.292G>A | XP_011535318.1:p.Ala98Thr |
| XM_011537016.2:c.292G>A | XP_011535318.1:p.Ala98Thr |