Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7926296G>A , CM000682.2:g.7926296G>A | GRCh38 |
| NC_000020.10:g.7906943G>A , CM000682.1:g.7906943G>A | GRCh37 |
| NC_000020.9:g.7854943G>A | NCBI36 |
| NG_046733.1:g.19151C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017545.3:c.289+8188C>T MANE Select | NP_060015.1:n.289+8188C>T |
| ENST00000378789.4:c.289+8188C>T MANE Select | ENSP00000368066.3:n.289+8188C>T |
| NM_017545.2:c.289+8188C>T | NP_060015.1:n.289+8188C>T |
| ENST00000378789.3:c.289+8188C>T | ENSP00000368066.3:n.289+8188C>T |