Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60502032G>A , CM000673.2:g.60502032G>A | GRCh38 |
| NC_000011.9:g.60269505G>A , CM000673.1:g.60269505G>A | GRCh37 |
| NC_000011.8:g.60026081G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017716.3:c.464G>A MANE Select | NP_060186.2:p.Arg155His |
| ENST00000016913.8:c.464G>A MANE Select | ENSP00000016913.4:p.Arg155His |
| NM_001164470.1:c.326G>A | NP_001157942.1:p.Arg109His |
| NM_001164470.2:c.326G>A | NP_001157942.1:p.Arg109His |
| NM_017716.2:c.464G>A | NP_060186.2:p.Arg155His |
| ENST00000526784.5:c.326G>A | ENSP00000431959.1:p.Arg109His |
| ENST00000537076.5:c.326G>A | ENSP00000440424.1:p.Arg109His |
| XM_011545117.1:c.464G>A | XP_011543419.1:p.Arg155His |
| XM_011545117.2:c.464G>A | XP_011543419.1:p.Arg155His |