Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10485737C>T , CM000680.2:g.10485737C>T | GRCh38 |
| NC_000018.9:g.10485734C>T , CM000680.1:g.10485734C>T | GRCh37 |
| NC_000018.8:g.10475734C>T | NCBI36 |
| NG_027685.1:g.36110C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153000.5:c.1050C>T MANE Select | NP_694545.1:p.Gly350= |
| ENST00000355285.10:c.1050C>T MANE Select | ENSP00000347433.4:p.Gly350= |
| NM_153000.4:c.1050C>T | NP_694545.1:p.Gly350= |
| ENST00000355285.9:c.1050C>T | ENSP00000347433.4:p.Gly350= |
| ENST00000423585.2:c.*148C>T | ENSP00000404930.2:n.*148C>T |
| ENST00000578882.1:c.454-15C>T | ENSP00000463104.1:n.454-15C>T |
| ENST00000579685.1:c.473C>T | ENSP00000464649.1:n.473C>T |