Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553486C>A , CM000673.2:g.17553486C>A | GRCh38 |
| NC_000011.9:g.17575033C>A , CM000673.1:g.17575033C>A | GRCh37 |
| NC_000011.8:g.17531609C>A | NCBI36 |
| NG_033191.1:g.11114C>A | |
| NG_033191.2:g.11114C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.543C>A | ENSP00000382323.2:p.Arg181= | |
| ENST00000399397.6:c.507C>A MANE Select | ENSP00000382329.2:p.Arg169= | |
| ENST00000399391.6:c.543C>A | ENSP00000382323.2:p.Arg181= | |
| ENST00000399397.5:c.507C>A | ENSP00000382329.2:p.Arg169= | |
| ENST00000498332.5:n.413C>A | ||
| NM_001277269.1:c.543C>A | NP_001264198.1:p.Arg181= | |
| NM_001292063.1:c.507C>A | NP_001278992.1:p.Arg169= | |
| NM_001277269.2:c.543C>A | NP_001264198.1:p.Arg181= | |
| NM_001292063.2:c.507C>A MANE Select | NP_001278992.1:p.Arg169= |