Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86150561G>A , CM000670.2:g.86150561G>A | GRCh38 |
| NC_000008.10:g.87162790G>A , CM000670.1:g.87162790G>A | GRCh37 |
| NC_000008.9:g.87231906G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285393.4:c.816+273G>A MANE Select | ENSP00000285393.3:n.816+273G>A | |
| ENST00000285393.3:c.816+273G>A | ENSP00000285393.3:n.816+273G>A | |
| NM_152565.1:c.816+273G>A MANE Select | NP_689778.1:n.816+273G>A | |
| XM_011516955.1:c.546+273G>A | XP_011515257.1:n.546+273G>A |