Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204161309C>T , CM000663.2:g.204161309C>T | GRCh38 |
| NC_000001.10:g.204130437C>T , CM000663.1:g.204130437C>T | GRCh37 |
| NC_000001.9:g.202397060C>T | NCBI36 |
| NG_012122.1:g.10029G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.356G>A MANE Select | ENSP00000272190.8:p.Arg119His | |
| ENST00000638118.1:c.242G>A | ENSP00000490307.1:p.Arg81His | |
| ENST00000272190.8:c.356G>A | ENSP00000272190.8:p.Arg119His | |
| NM_000537.3:c.356G>A | NP_000528.1:p.Arg119His | |
| NM_000537.4:c.356G>A MANE Select | NP_000528.1:p.Arg119His |