Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48929394G= , CM000677.2:g.48929394G= | GRCh38 |
| NC_000015.9:g.49221591G= , CM000677.1:g.49221591G= | GRCh37 |
| NC_000015.8:g.47008883G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203349.4:c.586-4445C= MANE Select | NP_976224.3:n.586-4445C= |
| ENST00000332408.9:c.586-4445C= MANE Select | ENSP00000329668.4:n.586-4445C= |
| NM_203349.3:c.586-4445C= | NP_976224.3:n.586-4445C= |
| ENST00000332408.8:c.586-4445C= | ENSP00000329668.4:n.586-4445C= |
| XM_005254375.2:c.37-4445C= | XP_005254432.1:n.37-4445C= |
| XM_005254375.3:c.37-4445C= | XP_005254432.1:n.37-4445C= |
| XM_011521552.1:c.-3-4445C= | XP_011519854.1:n.-3-4445C= |