Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985996C>T , CM000678.2:g.1985996C>T | GRCh38 |
| NC_000016.9:g.2035997C>T , CM000678.1:g.2035997C>T | GRCh37 |
| NC_000016.8:g.1975998C>T | NCBI36 |
| NG_016288.1:g.6848C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005262.3:c.586C>T MANE Select | NP_005253.3:p.Arg196Cys |
| ENST00000248114.7:c.586C>T MANE Select | ENSP00000248114.6:p.Arg196Cys |
| NM_005262.2:c.586C>T | NP_005253.3:p.Arg196Cys |
| ENST00000248114.6:c.586C>T | ENSP00000248114.6:p.Arg196Cys |
| ENST00000565658.1:n.743C>T | |
| ENST00000567719.1:c.361C>T | ENSP00000455885.1:p.Arg121Cys |
| ENST00000567719.2:c.361C>T | ENSP00000455885.1:p.Arg121Cys |
| ENST00000569451.1:c.*59C>T | ENSP00000456432.1:n.*59C>T |