Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66230596G>A , CM000673.2:g.66230596G>A | GRCh38 |
| NC_000011.9:g.65998067G>A , CM000673.1:g.65998067G>A | GRCh37 |
| NC_000011.8:g.65754643G>A | NCBI36 |
| NG_033900.1:g.165244G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1423G>A MANE Select | NP_060496.2:p.Val475Met |
| ENST00000320580.9:c.1423G>A MANE Select | ENSP00000316454.4:p.Val475Met |
| NM_018026.3:c.1423G>A | NP_060496.2:p.Val475Met |
| ENST00000320580.8:c.1423G>A | ENSP00000316454.4:p.Val475Met |
| ENST00000529757.5:c.31G>A | ENSP00000432858.1:p.Val11Met |
| XM_011545162.1:c.1102G>A | XP_011543464.1:p.Val368Met |
| XM_011545163.1:c.1093G>A | XP_011543465.1:p.Val365Met |
| XM_011545164.1:c.1084G>A | XP_011543466.1:p.Val362Met |
| XM_011545164.2:c.1084G>A | XP_011543466.1:p.Val362Met |