Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346595G>A , CM000685.2:g.101346595G>A | GRCh38 |
| NC_000023.10:g.100601583G>A , CM000685.1:g.100601583G>A | GRCh37 |
| NC_000023.9:g.100488239G>A | NCBI36 |
| NG_011734.1:g.7375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.198C>T MANE Select | ENSP00000361993.3:p.Cys66= | |
| ENST00000644112.2:c.*1792C>T | ENSP00000494385.1:n.*1792C>T | |
| ENST00000645279.1:c.*392C>T | ENSP00000494239.1:n.*392C>T | |
| ENST00000647480.1:n.715C>T | ||
| ENST00000372902.3:c.198C>T | ENSP00000361993.3:p.Cys66= | |
| NM_004085.3:c.198C>T | NP_004076.1:p.Cys66= | |
| NM_004085.4:c.198C>T MANE Select | NP_004076.1:p.Cys66= | |
| NM_001145951.2:c.*1792C>T | NP_001139423.1:n.*1792C>T |