Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38689493C>T , CM000675.2:g.38689493C>T | GRCh38 |
| NC_000013.10:g.39263630C>T , CM000675.1:g.39263630C>T | GRCh37 |
| NC_000013.9:g.38161630C>T | NCBI36 |
| NG_008125.2:g.7458C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.2149C>T MANE Select | NP_997244.4:p.Gln717Ter |
| ENST00000280481.9:c.2149C>T MANE Select | ENSP00000280481.7:p.Gln717Ter |
| NM_207361.5:c.2149C>T | NP_997244.4:p.Gln717Ter |
| ENST00000280481.8:c.2149C>T | ENSP00000280481.7:p.Gln717Ter |
| XM_011535057.1:c.2149C>T | XP_011533359.1:p.Gln717Ter |
| XM_017020554.1:c.2149C>T | XP_016876043.1:p.Gln717Ter |
| XR_941571.1:n.2457C>T | |
| XR_941571.2:n.2453C>T |