Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13974567C>A , CM000673.2:g.13974567C>A | GRCh38 |
| NC_000011.9:g.13996114C>A , CM000673.1:g.13996114C>A | GRCh37 |
| NC_000011.8:g.13952690C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576479.4:c.239-8280C>A MANE Select | ENSP00000460236.1:n.239-8280C>A | |
| ENST00000576479.3:c.239-8280C>A | ENSP00000460236.1:n.239-8280C>A | |
| NM_006108.3:c.239-8280C>A | NP_006099.2:n.239-8280C>A | |
| NM_006108.4:c.239-8280C>A MANE Select | NP_006099.2:n.239-8280C>A |