Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853725C>T , CM000685.2:g.46853725C>T | GRCh38 |
| NC_000023.10:g.46713160C>T , CM000685.1:g.46713160C>T | GRCh37 |
| NC_000023.9:g.46598104C>T | NCBI36 |
| NG_009107.1:g.21814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.352C>T MANE Select | ENSP00000218340.3:p.Arg118Cys | |
| ENST00000218340.3:c.352C>T | ENSP00000218340.3:p.Arg118Cys | |
| NM_006915.2:c.352C>T | NP_008846.2:p.Arg118Cys | |
| NM_006915.3:c.352C>T MANE Select | NP_008846.2:p.Arg118Cys |