Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319140G= , CM000673.2:g.6319140G= | GRCh38 |
| NC_000011.9:g.6340370G= , CM000673.1:g.6340370G= | GRCh37 |
| NC_000011.8:g.6296946G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*23C= MANE Select | ENSP00000307292.3:n.*23C= | |
| ENST00000303927.3:c.*23C= | ENSP00000307292.3:n.*23C= | |
| ENST00000524852.1:n.595C= | ||
| ENST00000532354.1:n.831C= | ||
| NM_145040.2:c.*23C= | NP_659477.2:n.*23C= | |
| XR_930997.1:n.720+920G= | ||
| NM_145040.3:c.*23C= MANE Select | NP_659477.2:n.*23C= |