Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319397C>T , CM000673.2:g.6319397C>T | GRCh38 |
| NC_000011.9:g.6340627C>T , CM000673.1:g.6340627C>T | GRCh37 |
| NC_000011.8:g.6297203C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.552G>A MANE Select | ENSP00000307292.3:p.Gln184= | |
| ENST00000303927.3:c.552G>A | ENSP00000307292.3:p.Gln184= | |
| ENST00000524852.1:n.338G>A | ||
| ENST00000530979.1:c.648G>A | ENSP00000432047.1:p.Gln216= | |
| ENST00000532354.1:n.574G>A | ||
| NM_145040.2:c.552G>A | NP_659477.2:p.Gln184= | |
| XR_930997.1:n.720+1177C>T | ||
| XR_001748106.1:n.8C>T | ||
| XR_242848.4:n.257C>T | ||
| NM_145040.3:c.552G>A MANE Select | NP_659477.2:p.Gln184= |