Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854632C>T , CM000665.2:g.13854632C>T | GRCh38 |
| NC_000003.11:g.13896129C>T , CM000665.1:g.13896129C>T | GRCh37 |
| NC_000003.10:g.13871130C>T | NCBI36 |
| NG_008088.1:g.30490G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004625.4:c.470G>A MANE Select | NP_004616.2:p.Arg157His |
| ENST00000285018.5:c.470G>A MANE Select | ENSP00000285018.4:p.Arg157His |
| NM_004625.3:c.470G>A | NP_004616.2:p.Arg157His |
| ENST00000285018.4:c.470G>A | ENSP00000285018.4:p.Arg157His |
| XM_011534090.1:c.269G>A | XP_011532392.1:p.Arg90His |
| XM_011534091.1:c.269G>A | XP_011532393.1:p.Arg90His |
| XM_011534091.2:c.269G>A | XP_011532393.1:p.Arg90His |