Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527255C>T , CM000685.2:g.48527255C>T | GRCh38 |
| NC_000023.10:g.48385643C>T , CM000685.1:g.48385643C>T | GRCh37 |
| NC_000023.9:g.48270587C>T | NCBI36 |
| NG_007452.1:g.10480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.439C>T MANE Select | ENSP00000417052.1:p.Arg147Cys | |
| ENST00000651615.1:c.439C>T | ENSP00000498524.1:p.Arg147Cys | |
| ENST00000276096.10:n.397C>T | ||
| ENST00000446158.5:c.439C>T | ENSP00000390031.1:p.Arg147Cys | |
| ENST00000466461.1:n.278C>T | ||
| ENST00000495186.5:c.439C>T | ENSP00000417052.1:p.Arg147Cys | |
| ENST00000498425.1:n.560C>T | ||
| NM_006579.2:c.439C>T | NP_006570.1:p.Arg147Cys | |
| NM_006579.3:c.439C>T MANE Select | NP_006570.1:p.Arg147Cys |