Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.17000966G= , CM000670.2:g.17000966G= | GRCh38 |
| NC_000008.10:g.16858475G= , CM000670.1:g.16858475G= | GRCh37 |
| NC_000008.9:g.16902846G= | NCBI36 |
| NG_015978.1:g.6200C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019851.3:c.286+781C= MANE Select | NP_062825.1:n.286+781C= |
| ENST00000180166.6:c.286+781C= MANE Select | ENSP00000180166.5:n.286+781C= |
| NM_019851.2:c.286+781C= | NP_062825.1:n.286+781C= |
| ENST00000180166.5:c.286+781C= | ENSP00000180166.5:n.286+781C= |
| ENST00000519941.1:c.94+781C= |