Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147877298A>C , CM000669.2:g.147877298A>C | GRCh38 |
| NC_000007.13:g.147574390A>C , CM000669.1:g.147574390A>C | GRCh37 |
| NC_000007.12:g.147205323A>C | NCBI36 |
| NG_007092.2:g.1765938A>C | |
| NG_007092.3:g.1766298A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2099-26267A>C MANE Select | NP_054860.1:n.2099-26267A>C |
| ENST00000361727.8:c.2099-26267A>C MANE Select | ENSP00000354778.3:n.2099-26267A>C |
| NM_014141.5:c.2099-26267A>C | NP_054860.1:n.2099-26267A>C |
| ENST00000361727.7:c.2099-26267A>C | ENSP00000354778.3:n.2099-26267A>C |
| ENST00000455301.2:n.34-26267A>C | |
| ENST00000627772.2:n.272-26267A>C | |
| ENST00000636870.1:n.1961-26267A>C | |
| ENST00000637825.1:n.1582-26267A>C | |
| XM_006715919.1:c.587-26267A>C | XP_006715982.1:n.587-26267A>C |