Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66230585C>T , CM000673.2:g.66230585C>T | GRCh38 |
| NC_000011.9:g.65998056C>T , CM000673.1:g.65998056C>T | GRCh37 |
| NC_000011.8:g.65754632C>T | NCBI36 |
| NG_033900.1:g.165233C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1412C>T MANE Select | NP_060496.2:p.Thr471Met |
| ENST00000320580.9:c.1412C>T MANE Select | ENSP00000316454.4:p.Thr471Met |
| NM_018026.3:c.1412C>T | NP_060496.2:p.Thr471Met |
| ENST00000320580.8:c.1412C>T | ENSP00000316454.4:p.Thr471Met |
| ENST00000529757.5:c.20C>T | ENSP00000432858.1:p.Thr7Met |
| XM_011545162.1:c.1091C>T | XP_011543464.1:p.Thr364Met |
| XM_011545163.1:c.1082C>T | XP_011543465.1:p.Thr361Met |
| XM_011545164.1:c.1073C>T | XP_011543466.1:p.Thr358Met |
| XM_011545164.2:c.1073C>T | XP_011543466.1:p.Thr358Met |