Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044377C>T , CM000672.2:g.114044377C>T | GRCh38 |
| NC_000010.10:g.115804136C>T , CM000672.1:g.115804136C>T | GRCh37 |
| NC_000010.9:g.115794126C>T | NCBI36 |
| NG_012187.1:g.5331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.245C>T MANE Select | ENSP00000358301.2:p.Ala82Val | |
| ENST00000369295.3:c.245C>T | ENSP00000358301.2:p.Ala82Val | |
| NM_000684.2:c.245C>T | NP_000675.1:p.Ala82Val | |
| NM_000684.3:c.245C>T MANE Select | NP_000675.1:p.Ala82Val |