Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763824C>T , CM000673.2:g.763824C>T | GRCh38 |
| NC_000011.9:g.763824C>T , CM000673.1:g.763824C>T | GRCh37 |
| NC_000011.8:g.753824C>T | NCBI36 |
| NG_008160.1:g.21393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.715C>T MANE Select | ENSP00000321259.3:p.Arg239Cys | |
| ENST00000319006.7:c.715C>T | ENSP00000321259.3:p.Arg239Cys | |
| ENST00000528097.5:c.715C>T | ENSP00000437098.1:p.Arg239Cys | |
| ENST00000530440.1:c.*374C>T | ENSP00000433501.1:n.*374C>T | |
| NM_006755.1:c.715C>T | NP_006746.1:p.Arg239Cys | |
| NM_006755.2:c.715C>T MANE Select | NP_006746.1:p.Arg239Cys |