Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179095045C>T , CM000663.2:g.179095045C>T | GRCh38 |
| NC_000001.10:g.179064180C>T , CM000663.1:g.179064180C>T | GRCh37 |
| NC_000001.9:g.177330803C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022371.4:c.1021C>T MANE Select | NP_071766.2:p.Arg341Cys |
| ENST00000367627.8:c.1021C>T MANE Select | ENSP00000356599.3:p.Arg341Cys |
| NM_022371.3:c.1021C>T | NP_071766.2:p.Arg341Cys |
| ENST00000352445.10:c.943+828C>T | ENSP00000335351.6:n.943+828C>T |
| ENST00000367627.7:c.1021C>T | ENSP00000356599.3:p.Arg341Cys |