Linked Data
ClinVar Variation Id:
1766482
ClinVar RCV Id:
RCV002371523
dbSNP Id:
rs1448014646
gnomAD v4:
2-47403100-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403100C>G , CM000664.2:g.47403100C>G | GRCh38 |
| NC_000002.11:g.47630239C>G , CM000664.1:g.47630239C>G | GRCh37 |
| NC_000002.10:g.47483743C>G | NCBI36 |
| NG_007110.2:g.4977C>G , LRG_218:g.4977C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-106C>G | ENSP00000442697.1:n.-106C>G | |
| ENST00000233146.6:c.-92C>G | ENSP00000233146.2:n.-92C>G | |
| ENST00000454849.5:c.-106C>G | ENSP00000411482.1:n.-106C>G | |
| ENST00000543555.5:c.-106C>G | ENSP00000442697.1:n.-106C>G | |
| NM_000251.2:c.-92C>G , LRG_218t1:c.-92C>G | NP_000242.1:n.-92C>G | |
| NM_001258281.1:c.-106C>G | NP_001245210.1:n.-106C>G |