Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23384507G>A , CM000676.2:g.23384507G>A | GRCh38 |
| NC_000014.8:g.23853716G>A , CM000676.1:g.23853716G>A | GRCh37 |
| NC_000014.7:g.22923556G>A | NCBI36 |
| NG_023444.1:g.28771C>T , LRG_389:g.28771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.5500C>T MANE Select | ENSP00000386041.3:p.Arg1834Cys | |
| ENST00000356287.3:c.5500C>T | ENSP00000348634.3:p.Arg1834Cys | |
| ENST00000405093.7:c.5500C>T | ENSP00000386041.3:p.Arg1834Cys | |
| NM_002471.3:c.5500C>T , LRG_389t1:c.5500C>T | NP_002462.2:p.Arg1834Cys | |
| NM_002471.4:c.5500C>T MANE Select | NP_002462.2:p.Arg1834Cys |