Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811506C>T , CM000677.2:g.71811506C>T | GRCh38 |
| NC_000015.9:g.72103846C>T , CM000677.1:g.72103846C>T | GRCh37 |
| NC_000015.8:g.69890900C>T | NCBI36 |
| NG_009113.2:g.5952C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.142C>T MANE Select | NP_055064.1:p.Arg48Cys |
| ENST00000617575.5:c.142C>T MANE Select | ENSP00000482504.1:p.Arg48Cys |
| NM_014249.3:c.142C>T | NP_055064.1:p.Arg48Cys |
| NM_016346.3:c.142C>T | NP_057430.1:p.Arg48Cys |
| NM_016346.4:c.142C>T | NP_057430.1:p.Arg48Cys |
| ENST00000617575.4:c.142C>T | ENSP00000482504.1:p.Arg48Cys |
| ENST00000621098.1:c.142C>T | ENSP00000479962.1:p.Arg48Cys |
| ENST00000621736.4:c.-123C>T | ENSP00000479254.1:n.-123C>T |
| XM_011521146.1:c.-123C>T | XP_011519448.1:n.-123C>T |