Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604709C>T , CM000671.2:g.6604709C>T | GRCh38 |
| NC_000009.11:g.6604709C>T , CM000671.1:g.6604709C>T | GRCh37 |
| NC_000009.10:g.6594709C>T | NCBI36 |
| NG_016397.1:g.45984G>A , LRG_643:g.45984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.937G>A MANE Select | ENSP00000370737.4:p.Ala313Thr | |
| ENST00000638654.1:c.184G>A | ENSP00000491101.1:p.Ala62Thr | |
| ENST00000639364.1:n.637G>A | ||
| ENST00000639443.1:n.505G>A | ||
| ENST00000639493.1:n.89G>A | ||
| ENST00000639954.1:n.645G>A | ||
| ENST00000640592.1:n.820G>A | ||
| ENST00000321612.6:c.937G>A | ENSP00000370737.3:p.Ala313Thr | |
| ENST00000463305.1:n.142+422G>A | ||
| NM_000170.2:c.937G>A , LRG_643t1:c.937G>A | NP_000161.2:p.Ala313Thr | |
| NM_000170.3:c.937G>A MANE Select | NP_000161.2:p.Ala313Thr |