Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231343T>C , CM000672.2:g.68231343T>C | GRCh38 |
| NC_000010.10:g.69991100T>C , CM000672.1:g.69991100T>C | GRCh37 |
| NC_000010.9:g.69661106T>C | NCBI36 |
| NG_031934.1:g.5771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.335A>G MANE Select | ENSP00000362777.3:p.His112Arg | |
| ENST00000373673.4:c.335A>G | ENSP00000362777.3:p.His112Arg | |
| NM_145178.3:c.335A>G | NP_660161.1:p.His112Arg | |
| NM_145178.4:c.335A>G MANE Select | NP_660161.1:p.His112Arg |