Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115483C>T , CM000681.2:g.10115483C>T | GRCh38 |
| NC_000019.9:g.10226159C>T , CM000681.1:g.10226159C>T | GRCh37 |
| NC_000019.8:g.10087159C>T | NCBI36 |
| NG_047007.1:g.8963C>T | |
| NG_051197.1:g.9442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.943G>A MANE Select | ENSP00000253108.3:p.Ala315Thr | |
| ENST00000253108.8:c.943G>A | ENSP00000253108.3:p.Ala315Thr | |
| ENST00000590158.1:n.962G>A | ||
| ENST00000593054.5:c.337G>A | ENSP00000467187.1:p.Ala113Thr | |
| NM_003755.3:c.943G>A | NP_003746.2:p.Ala315Thr | |
| NM_003755.4:c.943G>A | NP_003746.2:p.Ala315Thr | |
| NM_003755.5:c.943G>A MANE Select | NP_003746.2:p.Ala315Thr |