Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117707001C>T , CM000668.2:g.117707001C>T | GRCh38 |
| NC_000006.11:g.118028164C>T , CM000668.1:g.118028164C>T | GRCh37 |
| NC_000006.10:g.118134857C>T | NCBI36 |
| NG_054913.1:g.36548C>T | |
| NG_054913.2:g.36548C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.868C>T MANE Select | NP_612468.1:p.Arg290Cys |
| ENST00000368494.4:c.868C>T MANE Select | ENSP00000357480.3:p.Arg290Cys |
| NM_138459.3:c.868C>T | NP_612468.1:p.Arg290Cys |
| NM_138459.4:c.868C>T | NP_612468.1:p.Arg290Cys |
| ENST00000368494.3:c.868C>T | ENSP00000357480.3:p.Arg290Cys |