Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253129T>C , CM000673.2:g.5253129T>C | GRCh38 |
| NC_000011.9:g.5274359T>C , CM000673.1:g.5274359T>C | GRCh37 |
| NC_000011.8:g.5230935T>C | NCBI36 |
| NG_000007.3:g.44487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.315+1163A>G | ENSP00000495346.1:n.315+1163A>G | |
| ENST00000647543.1:c.378+214A>G | ENSP00000496470.1:n.378+214A>G | |
| ENST00000620888.4:c.315+1163A>G | ENSP00000479637.1:n.315+1163A>G |