Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10485745C>T , CM000680.2:g.10485745C>T | GRCh38 |
| NC_000018.9:g.10485742C>T , CM000680.1:g.10485742C>T | GRCh37 |
| NC_000018.8:g.10475742C>T | NCBI36 |
| NG_027685.1:g.36118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355285.10:c.1058C>T MANE Select | ENSP00000347433.4:p.Ser353Leu | |
| ENST00000355285.9:c.1058C>T | ENSP00000347433.4:p.Ser353Leu | |
| ENST00000423585.2:c.*156C>T | ENSP00000404930.2:n.*156C>T | |
| ENST00000578882.1:c.454-7C>T | ENSP00000463104.1:n.454-7C>T | |
| ENST00000579685.1:c.481C>T | ENSP00000464649.1:n.481C>T | |
| NM_153000.4:c.1058C>T | NP_694545.1:p.Ser353Leu | |
| NM_153000.5:c.1058C>T MANE Select | NP_694545.1:p.Ser353Leu |