Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147829814C>A , CM000669.2:g.147829814C>A | GRCh38 |
| NC_000007.13:g.147526906C>A , CM000669.1:g.147526906C>A | GRCh37 |
| NC_000007.12:g.147157839C>A | NCBI36 |
| NG_007092.2:g.1718454C>A | |
| NG_007092.3:g.1718814C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2099-73751C>A MANE Select | NP_054860.1:n.2099-73751C>A |
| ENST00000361727.8:c.2099-73751C>A MANE Select | ENSP00000354778.3:n.2099-73751C>A |
| NM_014141.5:c.2099-73751C>A | NP_054860.1:n.2099-73751C>A |
| ENST00000361727.7:c.2099-73751C>A | ENSP00000354778.3:n.2099-73751C>A |
| ENST00000455301.2:n.34-73751C>A | |
| ENST00000627772.2:n.272-73751C>A | |
| ENST00000636870.1:n.1961-73751C>A | |
| ENST00000637825.1:n.1582-73751C>A | |
| XM_006715919.1:c.587-73751C>A | XP_006715982.1:n.587-73751C>A |