Linked Data
ClinVar Variation Id:
334285
ClinVar RCV Id:
RCV000377672
dbSNP Id:
rs115172989
gnomAD v2:
2-217277330-A-G
gnomAD v3:
2-216412607-A-G
gnomAD v4:
2-216412607-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216412607A>G , CM000664.2:g.216412607A>G | GRCh38 |
| NC_000002.11:g.217277330A>G , CM000664.1:g.217277330A>G | GRCh37 |
| NC_000002.10:g.216985575A>G | NCBI36 |
| NG_009771.1:g.5194A>G , LRG_108:g.5194A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425815.6:c.-206A>G | ENSP00000394410.2:n.-206A>G | |
| ENST00000430374.6:c.-96+4A>G | ENSP00000405077.2:n.-96+4A>G | |
| ENST00000444508.6:c.-223A>G | ENSP00000398969.2:n.-223A>G | |
| ENST00000697898.1:n.225A>G | ||
| ENST00000697899.1:c.-137A>G | ENSP00000513470.1:n.-137A>G | |
| ENST00000697900.1:n.140A>G | ||
| ENST00000697901.1:c.-137A>G | ENSP00000513471.1:n.-137A>G | |
| ENST00000697902.1:n.96A>G | ||
| ENST00000697903.1:c.-137A>G | ENSP00000513472.1:n.-137A>G | |
| ENST00000357276.9:c.-137A>G MANE Select | ENSP00000349823.4:n.-137A>G | |
| ENST00000357276.8:c.-137A>G | ENSP00000349823.4:n.-137A>G | |
| ENST00000425815.5:c.-206A>G | ENSP00000394410.1:n.-206A>G | |
| ENST00000430374.5:c.-96+4A>G | ENSP00000405077.1:n.-96+4A>G | |
| ENST00000444508.5:c.-223A>G | ENSP00000398969.1:n.-223A>G | |
| NM_014140.3:c.-137A>G , LRG_108t1:c.-137A>G | NP_054859.2:n.-137A>G | |
| XM_005246631.2:c.-96+4A>G | XP_005246688.1:n.-96+4A>G | |
| XM_005246632.1:c.-223A>G | XP_005246689.1:n.-223A>G | |
| XM_006712557.1:c.-137A>G | XP_006712620.1:n.-137A>G | |
| XM_005246632.2:c.-223A>G | XP_005246689.1:n.-223A>G | |
| NM_014140.4:c.-137A>G MANE Select | NP_054859.2:n.-137A>G |