Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66230615C>T , CM000673.2:g.66230615C>T | GRCh38 |
| NC_000011.9:g.65998086C>T , CM000673.1:g.65998086C>T | GRCh37 |
| NC_000011.8:g.65754662C>T | NCBI36 |
| NG_033900.1:g.165263C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1442C>T MANE Select | NP_060496.2:p.Thr481Ile |
| ENST00000320580.9:c.1442C>T MANE Select | ENSP00000316454.4:p.Thr481Ile |
| NM_018026.3:c.1442C>T | NP_060496.2:p.Thr481Ile |
| ENST00000320580.8:c.1442C>T | ENSP00000316454.4:p.Thr481Ile |
| ENST00000529757.5:c.50C>T | ENSP00000432858.1:p.Thr17Ile |
| XM_011545162.1:c.1121C>T | XP_011543464.1:p.Thr374Ile |
| XM_011545163.1:c.1112C>T | XP_011543465.1:p.Thr371Ile |
| XM_011545164.1:c.1103C>T | XP_011543466.1:p.Thr368Ile |
| XM_011545164.2:c.1103C>T | XP_011543466.1:p.Thr368Ile |