Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326202G>A , CM000678.2:g.2326202G>A | GRCh38 |
| NC_000016.9:g.2376203G>A , CM000678.1:g.2376203G>A | GRCh37 |
| NC_000016.8:g.2316204G>A | NCBI36 |
| NG_011790.1:g.19545C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.127C>T MANE Select | NP_001080.2:p.Arg43Cys |
| ENST00000301732.10:c.127C>T MANE Select | ENSP00000301732.5:p.Arg43Cys |
| NM_001089.2:c.127C>T | NP_001080.2:p.Arg43Cys |
| ENST00000301732.9:c.127C>T | ENSP00000301732.5:p.Arg43Cys |
| ENST00000382381.7:c.127C>T | ENSP00000371818.3:p.Arg43Cys |
| ENST00000563623.5:n.690C>T | |
| ENST00000567910.1:c.127C>T | ENSP00000454397.1:p.Arg43Cys |