Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154030G>A , CM000668.2:g.3154030G>A | GRCh38 |
| NC_000006.11:g.3154264G>A , CM000668.1:g.3154264G>A | GRCh37 |
| NC_000006.10:g.3099263G>A | NCBI36 |
| NG_042223.1:g.8520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.1171C>T MANE Select | ENSP00000369703.2:p.Arg391Cys | |
| ENST00000679400.1:n.1227C>T | ||
| ENST00000679907.1:n.1559C>T | ||
| ENST00000680036.1:n.1953C>T | ||
| ENST00000680967.1:n.2261C>T | ||
| ENST00000333628.3:c.1171C>T | ENSP00000369703.2:p.Arg391Cys | |
| NM_001069.2:c.1171C>T | NP_001060.1:p.Arg391Cys | |
| NM_001310315.1:c.916C>T | NP_001297244.1:p.Arg306Cys | |
| NM_001069.3:c.1171C>T MANE Select | NP_001060.1:p.Arg391Cys | |
| NM_001310315.2:c.916C>T | NP_001297244.1:p.Arg306Cys |