Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811969C>T , CM000677.2:g.71811969C>T | GRCh38 |
| NC_000015.9:g.72104309C>T , CM000677.1:g.72104309C>T | GRCh37 |
| NC_000015.8:g.69891363C>T | NCBI36 |
| NG_009113.2:g.6415C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.364C>T MANE Select | NP_055064.1:p.Arg122Cys |
| ENST00000617575.5:c.364C>T MANE Select | ENSP00000482504.1:p.Arg122Cys |
| NM_014249.3:c.364C>T | NP_055064.1:p.Arg122Cys |
| NM_016346.3:c.364C>T | NP_057430.1:p.Arg122Cys |
| NM_016346.4:c.364C>T | NP_057430.1:p.Arg122Cys |
| ENST00000617575.4:c.364C>T | ENSP00000482504.1:p.Arg122Cys |
| ENST00000621098.1:c.364C>T | ENSP00000479962.1:p.Arg122Cys |
| ENST00000621736.4:c.100C>T | ENSP00000479254.1:p.Arg34Cys |
| XM_011521146.1:c.100C>T | XP_011519448.1:p.Arg34Cys |