Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159857892C>T , CM000663.2:g.159857892C>T | GRCh38 |
| NC_000001.10:g.159827682C>T , CM000663.1:g.159827682C>T | GRCh37 |
| NC_000001.9:g.158094306C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013661.1:c.505G>A MANE Select | NP_001013683.1:p.Ala169Thr |
| ENST00000368100.1:c.505G>A MANE Select | ENSP00000357080.1:p.Ala169Thr |
| ENST00000645519.1:c.566G>A | ENSP00000494894.1:n.566G>A |
| XR_001738261.1:n.82+1789C>T | |
| XR_001738262.1:n.77+1732C>T | |
| XR_001738263.1:n.55-2754C>T |