Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59806561T>C , CM000673.2:g.59806561T>C | GRCh38 |
| NC_000011.9:g.59574034T>C , CM000673.1:g.59574034T>C | GRCh37 |
| NC_000011.8:g.59330610T>C | NCBI36 |
| NG_047082.1:g.56503T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017840.4:c.542A>G MANE Select | NP_060310.1:p.His181Arg |
| ENST00000300151.5:c.542A>G MANE Select | ENSP00000300151.4:p.His181Arg |
| NM_017840.3:c.542A>G | NP_060310.1:p.His181Arg |
| ENST00000300151.4:c.542A>G | ENSP00000300151.4:p.His181Arg |
| ENST00000534340.1:c.233A>G | ENSP00000436592.1:p.His78Arg |
| XM_011545118.1:c.233A>G | XP_011543420.1:p.His78Arg |