Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66070784C>T , CM000673.2:g.66070784C>T | GRCh38 |
| NC_000011.9:g.65838255C>T , CM000673.1:g.65838255C>T | GRCh37 |
| NC_000011.8:g.65594831C>T | NCBI36 |
| NG_033900.1:g.5432C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.298C>T MANE Select | NP_060496.2:p.Gln100Ter |
| ENST00000320580.9:c.298C>T MANE Select | ENSP00000316454.4:p.Gln100Ter |
| NM_018026.3:c.298C>T | NP_060496.2:p.Gln100Ter |
| ENST00000320580.8:c.298C>T | ENSP00000316454.4:p.Gln100Ter |
| ENST00000527224.1:n.422C>T | |
| XR_001747924.1:n.509C>T |