Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719306C>T , CM000667.2:g.71719306C>T | GRCh38 |
| NC_000005.9:g.71015133C>T , CM000667.1:g.71015133C>T | GRCh37 |
| NC_000005.8:g.71050889C>T | NCBI36 |
| NG_015988.1:g.5144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.13C>T MANE Select | ENSP00000296777.4:p.Arg5Cys | |
| ENST00000296777.4:c.13C>T | ENSP00000296777.4:p.Arg5Cys | |
| NM_004291.3:c.13C>T | NP_004282.1:p.Arg5Cys | |
| NM_004291.4:c.13C>T MANE Select | NP_004282.1:p.Arg5Cys |