Linked Data
dbSNP Id:
rs2117608631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18388813C>G , CM000670.2:g.18388813C>G | GRCh38 |
| NC_000008.10:g.18246323C>G , CM000670.1:g.18246323C>G | GRCh37 |
| NC_000008.9:g.18290603C>G | NCBI36 |
| NG_012246.1:g.2569C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012938.1:c.-7+1777C>G | XP_016868427.1:n.-7+1777C>G |