Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12097875C>T , CM000672.2:g.12097875C>T | GRCh38 |
| NC_000010.10:g.12139874C>T , CM000672.1:g.12139874C>T | GRCh37 |
| NC_000010.9:g.12179880C>T | NCBI36 |
| NG_033248.1:g.33959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.1550C>T MANE Select | ENSP00000263035.4:p.Ala517Val | |
| ENST00000263035.8:c.1550C>T | ENSP00000263035.4:p.Ala517Val | |
| ENST00000448829.1:c.204C>T | ||
| ENST00000465617.1:n.690C>T | ||
| NM_018706.6:c.1550C>T | NP_061176.3:p.Ala517Val | |
| NM_018706.7:c.1550C>T MANE Select | NP_061176.4:p.Ala517Val |