Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2431619G>A , CM000681.2:g.2431619G>A | GRCh38 |
| NC_000019.9:g.2431617G>A , CM000681.1:g.2431617G>A | GRCh37 |
| NC_000019.8:g.2382617G>A | NCBI36 |
| NG_008355.1:g.30342C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1750C>T MANE Select | NP_116126.3:p.Arg584Cys |
| ENST00000325327.4:c.1750C>T MANE Select | ENSP00000327054.3:p.Arg584Cys |
| NM_032737.3:c.1750C>T | NP_116126.3:p.Arg584Cys |
| ENST00000325327.3:c.1750C>T | ENSP00000327054.3:p.Arg584Cys |
| ENST00000475819.1:n.47+164C>T | |
| ENST00000532465.1:n.342C>T | |
| XM_011528378.1:c.1750C>T | XP_011526680.1:p.Arg584Cys |
| XM_011528379.1:c.1402C>T | XP_011526681.1:p.Arg468Cys |