Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102497584C>T , CM000676.2:g.102497584C>T | GRCh38 |
| NC_000014.8:g.102963921C>T , CM000676.1:g.102963921C>T | GRCh37 |
| NC_000014.7:g.102033674C>T | NCBI36 |
| NG_042851.1:g.139673C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014844.5:c.3946C>T MANE Select | NP_055659.2:p.Gln1316Ter |
| ENST00000359520.12:c.3946C>T MANE Select | ENSP00000352510.7:p.Gln1316Ter |
| NM_014844.3:c.3946C>T | NP_055659.2:p.Gln1316Ter |
| NM_014844.4:c.3946C>T | NP_055659.2:p.Gln1316Ter |
| ENST00000359520.11:c.3946C>T | ENSP00000352510.7:p.Gln1316Ter |
| ENST00000559124.1:n.46C>T | |
| ENST00000561099.1:n.255C>T | |
| XM_005268246.2:c.3613C>T | XP_005268303.1:p.Gln1205Ter |