Linked Data
ClinVar Variation Id:
1175413
ClinVar RCV Id:
RCV001530571
dbSNP Id:
rs185790394
gnomAD v2:
6-1610437-C-G
gnomAD v3:
6-1610202-C-G
gnomAD v4:
6-1610202-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610202C>G , CM000668.2:g.1610202C>G | GRCh38 |
| NC_000006.11:g.1610437C>G , CM000668.1:g.1610437C>G | GRCh37 |
| NC_000006.10:g.1555436C>G | NCBI36 |
| NG_009368.1:g.4757C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-244C>G MANE Select | ENSP00000493906.1:n.-244C>G | |
| ENST00000380874.3:c.-244C>G | ENSP00000370256.2:n.-244C>G | |
| NM_001453.3:c.-244C>G MANE Select | NP_001444.2:n.-244C>G |