Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168486521G>T , CM000667.2:g.168486521G>T | GRCh38 |
| NC_000005.9:g.167913526G>T , CM000667.1:g.167913526G>T | GRCh37 |
| NC_000005.8:g.167846104G>T | NCBI36 |
| NG_041809.1:g.5064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231572.8:c.23G>T MANE Select | ENSP00000231572.3:p.Cys8Phe | |
| ENST00000231572.7:c.23G>T | ENSP00000231572.3:p.Cys8Phe | |
| ENST00000520013.5:c.23G>T | ENSP00000429030.1:p.Cys8Phe | |
| ENST00000521329.5:c.23G>T | ENSP00000428494.1:p.Cys8Phe | |
| ENST00000521939.5:n.36G>T | ||
| ENST00000522834.5:c.23G>T | ENSP00000430035.1:p.Cys8Phe | |
| ENST00000524082.5:n.71G>T | ||
| ENST00000626454.1:c.23G>T | ENSP00000486284.1:p.Cys8Phe | |
| NM_002887.3:c.23G>T | NP_002878.2:p.Cys8Phe | |
| NM_002887.4:c.23G>T MANE Select | NP_002878.2:p.Cys8Phe |