Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319135G>A , CM000673.2:g.6319135G>A | GRCh38 |
| NC_000011.9:g.6340365G>A , CM000673.1:g.6340365G>A | GRCh37 |
| NC_000011.8:g.6296941G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*28C>T MANE Select | ENSP00000307292.3:n.*28C>T | |
| ENST00000303927.3:c.*28C>T | ENSP00000307292.3:n.*28C>T | |
| ENST00000524852.1:n.600C>T | ||
| ENST00000532354.1:n.836C>T | ||
| NM_145040.2:c.*28C>T | NP_659477.2:n.*28C>T | |
| XR_930997.1:n.720+915G>A | ||
| NM_145040.3:c.*28C>T MANE Select | NP_659477.2:n.*28C>T |