Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553513C>T , CM000673.2:g.17553513C>T | GRCh38 |
| NC_000011.9:g.17575060C>T , CM000673.1:g.17575060C>T | GRCh37 |
| NC_000011.8:g.17531636C>T | NCBI36 |
| NG_033191.1:g.11141C>T | |
| NG_033191.2:g.11141C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001292063.2:c.534C>T MANE Select | NP_001278992.1:p.Ser178= |
| ENST00000399397.6:c.534C>T MANE Select | ENSP00000382329.2:p.Ser178= |
| NM_001277269.1:c.570C>T | NP_001264198.1:p.Ser190= |
| NM_001277269.2:c.570C>T | NP_001264198.1:p.Ser190= |
| NM_001292063.1:c.534C>T | NP_001278992.1:p.Ser178= |
| ENST00000399391.6:c.570C>T | ENSP00000382323.2:p.Ser190= |
| ENST00000399391.7:c.570C>T | ENSP00000382323.2:p.Ser190= |
| ENST00000399397.5:c.534C>T | ENSP00000382329.2:p.Ser178= |
| ENST00000498332.5:n.440C>T |