Linked Data
ClinVar Variation Id:
2065054
ClinVar RCV Id:
RCV002953898
dbSNP Id:
rs781755663
ExAC:
2:32351997 C / G
gnomAD v2:
2-32351997-C-G
gnomAD v3:
2-32126928-C-G
gnomAD v4:
2-32126928-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32126928C>G , CM000664.2:g.32126928C>G | GRCh38 |
| NC_000002.11:g.32351997C>G , CM000664.1:g.32351997C>G | GRCh37 |
| NC_000002.10:g.32205501C>G | NCBI36 |
| NG_008730.1:g.68318C>G , LRG_714:g.68318C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*759-20C>G | ENSP00000515816.1:n.*759-20C>G | |
| ENST00000315285.9:c.1099-20C>G MANE Select | ENSP00000320885.3:n.1099-20C>G | |
| ENST00000621856.2:c.1096-20C>G | ENSP00000482496.2:n.1096-20C>G | |
| ENST00000642281.1:c.983-9635C>G | ||
| ENST00000642455.1:c.1000-20C>G | ENSP00000493827.1:n.1000-20C>G | |
| ENST00000642751.1:c.873-20C>G | ||
| ENST00000642999.1:c.841-20C>G | ENSP00000496589.1:n.841-20C>G | |
| ENST00000643327.1:c.258-20C>G | ||
| ENST00000643334.1:c.679-20C>G | ||
| ENST00000644408.1:c.975-20C>G | ||
| ENST00000644954.1:c.745-20C>G | ENSP00000494312.1:n.745-20C>G | |
| ENST00000645159.1:n.431C>G | ||
| ENST00000645550.1:n.292C>G | ||
| ENST00000645671.1:c.549-20C>G | ||
| ENST00000645730.1:c.446-20C>G | ||
| ENST00000646082.1:c.745-20C>G | ||
| ENST00000646571.1:c.1003-20C>G | ENSP00000495015.1:n.1003-20C>G | |
| ENST00000647007.1:n.791-20C>G | ||
| ENST00000647133.1:c.674-1480C>G | ||
| ENST00000315285.7:c.1099-20C>G | ENSP00000320885.3:n.1099-20C>G | |
| ENST00000345662.5:c.1003-20C>G | ENSP00000340817.1:n.1003-20C>G | |
| ENST00000615843.4:c.1099-20C>G | ENSP00000480893.1:n.1099-20C>G | |
| ENST00000621856.1:c.841-20C>G | ENSP00000482496.1:n.841-20C>G | |
| NM_014946.3:c.1099-20C>G , LRG_714t1:c.1099-20C>G | NP_055761.2:n.1099-20C>G | |
| NM_199436.1:c.1003-20C>G | NP_955468.1:n.1003-20C>G | |
| XM_005264516.3:c.1096-20C>G | XP_005264573.1:n.1096-20C>G | |
| XM_011533067.1:c.1099-20C>G | XP_011531369.1:n.1099-20C>G | |
| NM_001363823.1:c.1096-20C>G | NP_001350752.1:n.1096-20C>G | |
| NM_001363875.1:c.1000-20C>G | NP_001350804.1:n.1000-20C>G | |
| XM_005264516.5:c.1096-20C>G | XP_005264573.1:n.1096-20C>G | |
| XM_011533067.2:c.1099-20C>G | XP_011531369.1:n.1099-20C>G | |
| XM_017004778.2:c.1003-20C>G | XP_016860267.1:n.1003-20C>G | |
| NM_001363823.2:c.1096-20C>G | NP_001350752.1:n.1096-20C>G | |
| NM_001363875.2:c.1000-20C>G | NP_001350804.1:n.1000-20C>G | |
| NM_001377959.1:c.1003-20C>G | NP_001364888.1:n.1003-20C>G | |
| NM_014946.4:c.1099-20C>G MANE Select | NP_055761.2:n.1099-20C>G | |
| NM_199436.2:c.1003-20C>G | NP_955468.1:n.1003-20C>G |