Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610825G>A , CM000668.2:g.1610825G>A | GRCh38 |
| NC_000006.11:g.1611060G>A , CM000668.1:g.1611060G>A | GRCh37 |
| NC_000006.10:g.1556059G>A | NCBI36 |
| NG_009368.1:g.5380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.380G>A MANE Select | ENSP00000493906.1:p.Arg127His | |
| ENST00000380874.3:c.380G>A | ENSP00000370256.2:p.Arg127His | |
| NM_001453.2:c.380G>A | NP_001444.2:p.Arg127His | |
| NM_001453.3:c.380G>A MANE Select | NP_001444.2:p.Arg127His |