Linked Data
dbSNP Id:
rs2103111107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122013T>G , CM000663.2:g.193122013T>G | GRCh38 |
| NC_000001.10:g.193091143T>G , CM000663.1:g.193091143T>G | GRCh37 |
| NC_000001.9:g.191357766T>G | NCBI36 |
| NG_012691.1:g.5056T>G , LRG_507:g.5056T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643006.1:c.-188T>G | ENSP00000496633.1:n.-188T>G | |
| ENST00000649895.1:n.31T>G | ||
| NM_024529.4:c.-188T>G , LRG_507t1:c.-188T>G | NP_078805.3:n.-188T>G | |
| XR_001738350.1:n.1644A>C |