Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.107427875C= , CM000675.2:g.107427875C= | GRCh38 |
| NC_000013.10:g.108080223C= , CM000675.1:g.108080223C= | GRCh37 |
| NC_000013.9:g.106878224C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080396.3:c.916-217120G= MANE Select | NP_001073865.1:n.916-217120G= |
| ENST00000375915.4:c.916-217120G= MANE Select | ENSP00000365080.1:n.916-217120G= |
| NM_001080396.2:c.916-217120G= | NP_001073865.1:n.916-217120G= |
| ENST00000375915.3:c.916-217120G= | ENSP00000365080.1:n.916-217120G= |
| XM_011521109.1:c.916-217120G= | XP_011519411.1:n.916-217120G= |
| XM_011521109.3:c.916-217120G= | XP_011519411.1:n.916-217120G= |