Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79738839C>A , CM000667.2:g.79738839C>A | GRCh38 |
| NC_000005.9:g.79034662C>A , CM000667.1:g.79034662C>A | GRCh37 |
| NC_000005.8:g.79070418C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153610.5:c.10074C>A MANE Select | NP_705838.3:p.His3358Gln |
| ENST00000446378.3:c.10074C>A MANE Select | ENSP00000394770.2:p.His3358Gln |
| NM_153610.4:c.10074C>A | NP_705838.3:p.His3358Gln |
| ENST00000446378.2:c.10074C>A | ENSP00000394770.2:p.His3358Gln |
| ENST00000506603.5:n.698C>A | |
| XM_017009212.1:c.9858C>A | XP_016864701.1:p.His3286Gln |
| XR_001742036.2:n.10275C>A | |
| XR_948242.1:n.10146C>A | |
| XR_948242.2:n.10275C>A |