Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54758875C>T , CM000663.2:g.54758875C>T | GRCh38 |
| NC_000001.10:g.55224548C>T , CM000663.1:g.55224548C>T | GRCh37 |
| NC_000001.9:g.54997136C>T | NCBI36 |
| NG_042048.1:g.10679G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152268.4:c.287G>A MANE Select | NP_689481.2:p.Arg96His |
| ENST00000371279.4:c.287G>A MANE Select | ENSP00000360327.3:p.Arg96His |
| NM_152268.3:c.287G>A | NP_689481.2:p.Arg96His |
| ENST00000371279.3:c.287G>A | ENSP00000360327.3:p.Arg96His |
| XM_011541203.1:c.464G>A | XP_011539505.1:p.Arg155His |