Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319089C>T , CM000673.2:g.6319089C>T | GRCh38 |
| NC_000011.9:g.6340319C>T , CM000673.1:g.6340319C>T | GRCh37 |
| NC_000011.8:g.6296895C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*74G>A MANE Select | ENSP00000307292.3:n.*74G>A | |
| ENST00000303927.3:c.*74G>A | ENSP00000307292.3:n.*74G>A | |
| ENST00000532354.1:n.882G>A | ||
| NM_145040.2:c.*74G>A | NP_659477.2:n.*74G>A | |
| XR_930997.1:n.720+869C>T | ||
| NM_145040.3:c.*74G>A MANE Select | NP_659477.2:n.*74G>A |