Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10487669C>T , CM000680.2:g.10487669C>T | GRCh38 |
| NC_000018.9:g.10487666C>T , CM000680.1:g.10487666C>T | GRCh37 |
| NC_000018.8:g.10477666C>T | NCBI36 |
| NG_027685.1:g.38042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355285.10:c.1176C>T MANE Select | ENSP00000347433.4:p.Ala392= | |
| ENST00000355285.9:c.1176C>T | ENSP00000347433.4:p.Ala392= | |
| ENST00000423585.2:c.*274C>T | ENSP00000404930.2:n.*274C>T | |
| ENST00000579685.1:c.599C>T | ENSP00000464649.1:n.599C>T | |
| NM_153000.4:c.1176C>T | NP_694545.1:p.Ala392= | |
| NM_153000.5:c.1176C>T MANE Select | NP_694545.1:p.Ala392= |