Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204160610G>A , CM000663.2:g.204160610G>A | GRCh38 |
| NC_000001.10:g.204129738G>A , CM000663.1:g.204129738G>A | GRCh37 |
| NC_000001.9:g.202396361G>A | NCBI36 |
| NG_012122.1:g.10728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.442C>T MANE Select | ENSP00000272190.8:p.Arg148Cys | |
| ENST00000638118.1:c.328C>T | ENSP00000490307.1:p.Arg110Cys | |
| ENST00000272190.8:c.442C>T | ENSP00000272190.8:p.Arg148Cys | |
| NM_000537.3:c.442C>T | NP_000528.1:p.Arg148Cys | |
| NM_000537.4:c.442C>T MANE Select | NP_000528.1:p.Arg148Cys |