Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120151274G>A , CM000674.2:g.120151274G>A | GRCh38 |
| NC_000012.11:g.120589078G>A , CM000674.1:g.120589078G>A | GRCh37 |
| NC_000012.10:g.119073461G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006836.2:c.4180C>T MANE Select | NP_006827.1:p.Arg1394Cys |
| ENST00000300648.7:c.4180C>T MANE Select | ENSP00000300648.6:p.Arg1394Cys |
| NM_006836.1:c.4180C>T | NP_006827.1:p.Arg1394Cys |
| ENST00000300648.6:c.4180C>T | ENSP00000300648.6:p.Arg1394Cys |