Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435683T>C , CM000672.2:g.70435683T>C | GRCh38 |
| NC_000010.10:g.72195439T>C , CM000672.1:g.72195439T>C | GRCh37 |
| NC_000010.9:g.71865445T>C | NCBI36 |
| NG_012448.1:g.11027A>G | |
| NG_012448.2:g.17266A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018055.5:c.494A>G MANE Select | NP_060525.3:p.His165Arg |
| ENST00000287139.8:c.494A>G MANE Select | ENSP00000287139.3:p.His165Arg |
| NM_001329906.1:c.95A>G | NP_001316835.1:p.His32Arg |
| NM_001329906.2:c.95A>G | NP_001316835.1:p.His32Arg |
| NM_018055.4:c.494A>G | NP_060525.3:p.His165Arg |
| ENST00000287139.7:c.494A>G | ENSP00000287139.3:p.His165Arg |
| ENST00000414871.1:c.329A>G | ENSP00000394468.1:p.His110Arg |
| XM_024448028.1:c.95A>G | XP_024303796.1:p.His32Arg |