Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872469G>A , CM000673.2:g.124872469G>A | GRCh38 |
| NC_000011.9:g.124742365G>A , CM000673.1:g.124742365G>A | GRCh37 |
| NC_000011.8:g.124247575G>A | NCBI36 |
| NG_016214.1:g.12061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1247G>A MANE Select | ENSP00000380903.1:p.Arg416His | |
| ENST00000397801.5:c.1247G>A | ENSP00000380903.1:p.Arg416His | |
| ENST00000538940.5:c.1181G>A | ENSP00000441797.1:p.Arg394His | |
| NM_022370.3:c.1247G>A | NP_071765.2:p.Arg416His | |
| XM_011542953.1:c.2219G>A | XP_011541255.1:p.Arg740His | |
| XM_017018122.1:c.1181G>A | XP_016873611.1:p.Arg394His | |
| NM_022370.4:c.1247G>A MANE Select | NP_071765.2:p.Arg416His |