Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388595G>A , CM000681.2:g.18388595G>A | GRCh38 |
| NC_000019.9:g.18499405G>A , CM000681.1:g.18499405G>A | GRCh37 |
| NC_000019.8:g.18360405G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.587G>A | ENSP00000470531.3:p.Arg196His | |
| ENST00000597765.2:c.587G>A | ENSP00000469819.2:p.Arg196His | |
| ENST00000252809.3:c.587G>A MANE Select | ENSP00000252809.3:p.Arg196His | |
| NM_004864.2:c.587G>A | NP_004855.2:p.Arg196His | |
| NM_004864.3:c.587G>A | NP_004855.2:p.Arg196His | |
| XM_024451789.1:c.587G>A | XP_024307557.1:p.Arg196His | |
| NM_004864.4:c.587G>A MANE Select | NP_004855.2:p.Arg196His |