Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766046T>C , CM000674.2:g.57766046T>C | GRCh38 |
| NC_000012.11:g.58159829T>C , CM000674.1:g.58159829T>C | GRCh37 |
| NC_000012.10:g.56446096T>C | NCBI36 |
| NG_007076.1:g.6148A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.259A>G | ||
| ENST00000713544.1:c.347A>G | ENSP00000518840.1:p.His116Arg | |
| ENST00000713545.1:c.347A>G | ENSP00000518841.1:p.His116Arg | |
| ENST00000228606.9:c.347A>G MANE Select | ENSP00000228606.4:p.His116Arg | |
| ENST00000228606.8:c.347A>G | ENSP00000228606.4:p.His116Arg | |
| ENST00000546496.1:n.175A>G | ||
| ENST00000546609.1:c.259A>G | ||
| ENST00000547344.5:n.401A>G | ||
| ENST00000552186.1:n.466A>G | ||
| NM_000785.3:c.347A>G | NP_000776.1:p.His116Arg | |
| NM_000785.4:c.347A>G MANE Select | NP_000776.1:p.His116Arg |