Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114776C>T , CM000667.2:g.140114776C>T | GRCh38 |
| NC_000005.9:g.139494361C>T , CM000667.1:g.139494361C>T | GRCh37 |
| NC_000005.8:g.139474545C>T | NCBI36 |
| NG_041813.1:g.5654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.595C>T MANE Select | ENSP00000332706.3:p.Arg199Cys | |
| ENST00000651386.1:c.595C>T | ENSP00000499133.1:p.Arg199Cys | |
| ENST00000331327.4:c.595C>T | ENSP00000332706.3:p.Arg199Cys | |
| NM_005859.4:c.595C>T | NP_005850.1:p.Arg199Cys | |
| NM_005859.5:c.595C>T MANE Select | NP_005850.1:p.Arg199Cys |