Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151399654C>T , CM000663.2:g.151399654C>T | GRCh38 |
| NC_000001.10:g.151372130C>T , CM000663.1:g.151372130C>T | GRCh37 |
| NC_000001.9:g.149638754C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290541.7:c.67C>T MANE Select | ENSP00000290541.6:p.Arg23Cys | |
| ENST00000290541.6:c.67C>T | ENSP00000290541.6:p.Arg23Cys | |
| ENST00000476467.1:n.68C>T | ||
| ENST00000493673.1:n.65C>T | ||
| ENST00000495288.5:n.95C>T | ||
| ENST00000495805.5:n.76C>T | ||
| NM_002796.2:c.67C>T | NP_002787.2:p.Arg23Cys | |
| NM_002796.3:c.67C>T MANE Select | NP_002787.2:p.Arg23Cys |