Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145863C>T , CM000666.2:g.185145863C>T | GRCh38 |
| NC_000004.11:g.186067017C>T , CM000666.1:g.186067017C>T | GRCh37 |
| NC_000004.10:g.186304011C>T | NCBI36 |
| NG_013001.1:g.7601C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001151.4:c.703C>T MANE Select | NP_001142.2:p.Arg235Cys |
| ENST00000281456.11:c.703C>T MANE Select | ENSP00000281456.5:p.Arg235Cys |
| NM_001151.3:c.703C>T | NP_001142.2:p.Arg235Cys |
| ENST00000281456.10:c.703C>T | ENSP00000281456.5:p.Arg235Cys |
| ENST00000491736.1:c.*480C>T | ENSP00000476711.1:n.*480C>T |