Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7928519G>A , CM000682.2:g.7928519G>A | GRCh38 |
| NC_000020.10:g.7909166G>A , CM000682.1:g.7909166G>A | GRCh37 |
| NC_000020.9:g.7857166G>A | NCBI36 |
| NG_046733.1:g.16928C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017545.3:c.289+5965C>T MANE Select | NP_060015.1:n.289+5965C>T |
| ENST00000378789.4:c.289+5965C>T MANE Select | ENSP00000368066.3:n.289+5965C>T |
| NM_017545.2:c.289+5965C>T | NP_060015.1:n.289+5965C>T |
| ENST00000378789.3:c.289+5965C>T | ENSP00000368066.3:n.289+5965C>T |