Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227138A>C , CM000673.2:g.5227138A>C | GRCh38 |
| NC_000011.9:g.5248368A>C , CM000673.1:g.5248368A>C | GRCh37 |
| NC_000011.8:g.5204944A>C | NCBI36 |
| NG_000007.3:g.70478T>G | |
| NG_059281.1:g.4934T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-117T>G | ENSP00000494175.1:n.-117T>G | |
| ENST00000380315.2:c.-18-99T>G | ENSP00000369671.2:n.-18-99T>G |