Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102685871C>T , CM000672.2:g.102685871C>T | GRCh38 |
| NC_000010.10:g.104445628C>T , CM000672.1:g.104445628C>T | GRCh37 |
| NC_000010.9:g.104435618C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004311.4:c.446G>A MANE Select | NP_004302.1:p.Arg149His |
| ENST00000260746.6:c.446G>A MANE Select | ENSP00000260746.4:p.Arg149His |
| NM_004311.3:c.446G>A | NP_004302.1:p.Arg149His |
| ENST00000260746.5:c.446G>A | ENSP00000260746.4:p.Arg149His |
| XM_017016260.1:c.446G>A | XP_016871749.1:p.Arg149His |