Linked Data
ClinVar Variation Id:
1633355
ClinVar RCV Id:
RCV002121794
dbSNP Id:
rs190639791
ExAC:
2:166167125 C / G
gnomAD v2:
2-166167125-C-G
gnomAD v3:
2-165310615-C-G
gnomAD v4:
2-165310615-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165310615C>G , CM000664.2:g.165310615C>G | GRCh38 |
| NC_000002.11:g.166167125C>G , CM000664.1:g.166167125C>G | GRCh37 |
| NC_000002.10:g.165875371C>G | NCBI36 |
| NG_008143.1:g.76214C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.970+20C>G MANE Plus Clinical | ENSP00000486885.1:n.970+20C>G | |
| ENST00000375437.7:c.970+20C>G MANE Select | ENSP00000364586.2:n.970+20C>G | |
| ENST00000635945.1:n.1333+20C>G | ||
| ENST00000636071.2:c.970+20C>G | ENSP00000490107.1:n.970+20C>G | |
| ENST00000636135.1:c.841+20C>G | ENSP00000489821.1:n.841+20C>G | |
| ENST00000636384.2:c.970+20C>G | ENSP00000490765.1:n.970+20C>G | |
| ENST00000636662.2:c.*1493+20C>G | ENSP00000489873.1:n.*1493+20C>G | |
| ENST00000636769.1:c.970+20C>G | ENSP00000490800.1:n.970+20C>G | |
| ENST00000636985.2:c.574+20C>G | ENSP00000490849.1:n.574+20C>G | |
| ENST00000637266.2:c.970+20C>G | ENSP00000490866.1:n.970+20C>G | |
| ENST00000637367.1:c.*903+20C>G | ENSP00000490592.1:n.*903+20C>G | |
| ENST00000638151.1:n.1054+20C>G | ||
| ENST00000283256.10:c.970+20C>G | ENSP00000283256.6:n.970+20C>G | |
| ENST00000375427.4:c.970+20C>G | ENSP00000364576.2:n.970+20C>G | |
| ENST00000375437.6:c.970+20C>G | ENSP00000364586.2:n.970+20C>G | |
| ENST00000424833.5:c.970+20C>G | ENSP00000406454.2:n.970+20C>G | |
| ENST00000480032.4:n.1113+20C>G | ||
| ENST00000486878.2:c.531C>G | ENSP00000487466.1:p.Asn177Lys | |
| ENST00000631182.2:c.970+20C>G | ENSP00000486885.1:n.970+20C>G | |
| NM_001040142.1:c.970+20C>G | NP_001035232.1:n.970+20C>G | |
| NM_001040143.1:c.970+20C>G | NP_001035233.1:n.970+20C>G | |
| NM_021007.2:c.970+20C>G | NP_066287.2:n.970+20C>G | |
| XM_005246750.2:c.970+20C>G | XP_005246807.1:n.970+20C>G | |
| XM_005246753.2:c.970+20C>G | XP_005246810.1:n.970+20C>G | |
| XM_005246754.3:c.940+20C>G | XP_005246811.1:n.940+20C>G | |
| XM_005246755.3:c.217+20C>G | XP_005246812.1:n.217+20C>G | |
| XM_011511608.1:c.970+20C>G | XP_011509910.1:n.970+20C>G | |
| XM_011511609.1:c.970+20C>G | XP_011509911.1:n.970+20C>G | |
| XM_005246753.3:c.970+20C>G | XP_005246810.1:n.970+20C>G | |
| XM_017004656.1:c.970+20C>G | XP_016860145.1:n.970+20C>G | |
| XM_017004657.1:c.970+20C>G | XP_016860146.1:n.970+20C>G | |
| XM_017004658.1:c.217+20C>G | XP_016860147.1:n.217+20C>G | |
| XM_024453037.1:c.217+20C>G | XP_024308805.1:n.217+20C>G | |
| NM_001040142.2:c.970+20C>G MANE Select | NP_001035232.1:n.970+20C>G | |
| NM_001040143.2:c.970+20C>G | NP_001035233.1:n.970+20C>G | |
| NM_001371246.1:c.970+20C>G MANE Plus Clinical | NP_001358175.1:n.970+20C>G | |
| NM_001371247.1:c.970+20C>G | NP_001358176.1:n.970+20C>G | |
| NM_021007.3:c.970+20C>G | NP_066287.2:n.970+20C>G |