Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44195678G= , CM000683.2:g.44195678G= | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000644251.1:c.429-6372G= | ENSP00000495305.1:n.429-6372G= |
| ENST00000645487.1:c.*202-1493G= | ENSP00000494347.1:n.*202-1493G= |
| ENST00000646873.1:c.313-12235G= |