Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553467G= , CM000673.2:g.17553467G= | GRCh38 |
| NC_000011.9:g.17575014G= , CM000673.1:g.17575014G= | GRCh37 |
| NC_000011.8:g.17531590G= | NCBI36 |
| NG_033191.1:g.11095G= | |
| NG_033191.2:g.11095G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.524G= | ENSP00000382323.2:p.Ser175= | |
| ENST00000399397.6:c.488G= MANE Select | ENSP00000382329.2:p.Ser163= | |
| ENST00000399391.6:c.524G= | ENSP00000382323.2:p.Ser175= | |
| ENST00000399397.5:c.488G= | ENSP00000382329.2:p.Ser163= | |
| ENST00000498332.5:n.394G= | ||
| NM_001277269.1:c.524G= | NP_001264198.1:p.Ser175= | |
| NM_001292063.1:c.488G= | NP_001278992.1:p.Ser163= | |
| NM_001277269.2:c.524G= | NP_001264198.1:p.Ser175= | |
| NM_001292063.2:c.488G= MANE Select | NP_001278992.1:p.Ser163= |