Linked Data
ClinVar Variation Id:
334293
dbSNP Id:
rs188833040
ExAC:
2:217285013 C / G
gnomAD v2:
2-217285013-C-G
gnomAD v3:
2-216420290-C-G
gnomAD v4:
2-216420290-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216420290C>G , CM000664.2:g.216420290C>G | GRCh38 |
| NC_000002.11:g.217285013C>G , CM000664.1:g.217285013C>G | GRCh37 |
| NC_000002.10:g.216993258C>G | NCBI36 |
| NG_009771.1:g.12877C>G , LRG_108:g.12877C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.863-9C>G | ENSP00000394410.2:n.863-9C>G | |
| ENST00000430374.6:c.863-9C>G | ENSP00000405077.2:n.863-9C>G | |
| ENST00000444508.6:c.863-9C>G | ENSP00000398969.2:n.863-9C>G | |
| ENST00000697898.1:n.1224-9C>G | ||
| ENST00000697899.1:c.863-3343C>G | ENSP00000513470.1:n.863-3343C>G | |
| ENST00000697900.1:n.1139-9C>G | ||
| ENST00000697901.1:c.863-9C>G | ENSP00000513471.1:n.863-9C>G | |
| ENST00000697902.1:n.1095-9C>G | ||
| ENST00000697903.1:c.863-9C>G | ENSP00000513472.1:n.863-9C>G | |
| ENST00000697904.1:c.863-9C>G | ENSP00000513473.1:n.863-9C>G | |
| ENST00000697905.1:c.863-9C>G | ENSP00000513474.1:n.863-9C>G | |
| ENST00000697906.1:c.863-3343C>G | ENSP00000513475.1:n.863-3343C>G | |
| ENST00000697907.1:c.863-9C>G | ENSP00000513476.1:n.863-9C>G | |
| ENST00000357276.9:c.863-9C>G MANE Select | ENSP00000349823.4:n.863-9C>G | |
| ENST00000357276.8:c.863-9C>G | ENSP00000349823.4:n.863-9C>G | |
| ENST00000358207.9:c.863-9C>G | ENSP00000350940.5:n.863-9C>G | |
| ENST00000392128.6:c.455-9C>G | ENSP00000375974.2:n.455-9C>G | |
| ENST00000412913.1:c.23-9C>G | ENSP00000390248.1:n.23-9C>G | |
| ENST00000427645.5:c.560-9C>G | ENSP00000392997.1:n.560-9C>G | |
| NM_001127207.1:c.863-9C>G | NP_001120679.1:n.863-9C>G | |
| NM_014140.3:c.863-9C>G , LRG_108t1:c.863-9C>G | NP_054859.2:n.863-9C>G | |
| XM_005246631.2:c.863-9C>G | XP_005246688.1:n.863-9C>G | |
| XM_005246632.1:c.863-9C>G | XP_005246689.1:n.863-9C>G | |
| XM_006712557.1:c.863-9C>G | XP_006712620.1:n.863-9C>G | |
| XM_005246632.2:c.863-9C>G | XP_005246689.1:n.863-9C>G | |
| XM_017004228.2:c.-54-9C>G | XP_016859717.1:n.-54-9C>G | |
| NM_001127207.2:c.863-9C>G | NP_001120679.1:n.863-9C>G | |
| NM_014140.4:c.863-9C>G MANE Select | NP_054859.2:n.863-9C>G |