Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942254C>A , CM000672.2:g.94942254C>A | GRCh38 |
| NC_000010.10:g.96702011C>A , CM000672.1:g.96702011C>A | GRCh37 |
| NC_000010.9:g.96692001C>A | NCBI36 |
| NG_008385.1:g.8597C>A | |
| NG_008385.2:g.9097C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.394C>A MANE Select | ENSP00000260682.6:p.Arg132= | |
| ENST00000643112.1:c.394C>A | ENSP00000496202.1:p.Arg132= | |
| ENST00000645207.1:n.547C>A | ||
| ENST00000260682.6:c.394C>A | ENSP00000260682.6:p.Arg132= | |
| ENST00000461906.1:n.419C>A | ||
| ENST00000473496.1:n.165C>A | ||
| NM_000771.3:c.394C>A | NP_000762.2:p.Arg132= | |
| NM_000771.4:c.394C>A MANE Select | NP_000762.2:p.Arg132= |