Linked Data
ClinVar Variation Id:
2870545
ClinVar RCV Id:
RCV003743290
dbSNP Id:
rs778692193
ExAC:
1:12052754 C / G
gnomAD v2:
1-12052754-C-G
gnomAD v3:
1-11992697-C-G
gnomAD v4:
1-11992697-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11992697C>G , CM000663.2:g.11992697C>G | GRCh38 |
| NC_000001.10:g.12052754C>G , CM000663.1:g.12052754C>G | GRCh37 |
| NC_000001.9:g.11975341C>G | NCBI36 |
| NG_007945.1:g.17517C>G , LRG_255:g.17517C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235329.10:c.311+7C>G MANE Select | ENSP00000235329.5:n.311+7C>G | |
| ENST00000674548.1:c.311+7C>G | ENSP00000502185.1:n.311+7C>G | |
| ENST00000674658.1:c.-34-3459C>G | ENSP00000502334.1:n.-34-3459C>G | |
| ENST00000674706.1:n.750+7C>G | ||
| ENST00000674817.1:c.311+7C>G | ENSP00000502151.1:n.311+7C>G | |
| ENST00000674910.1:c.311+7C>G | ENSP00000501716.1:n.311+7C>G | |
| ENST00000675053.1:c.311+7C>G | ENSP00000501646.1:n.311+7C>G | |
| ENST00000675113.1:c.311+7C>G | ENSP00000502623.1:n.311+7C>G | |
| ENST00000675194.1:n.736+7C>G | ||
| ENST00000675231.1:c.311+7C>G | ENSP00000502404.1:n.311+7C>G | |
| ENST00000675298.1:c.311+7C>G | ENSP00000501839.1:n.311+7C>G | |
| ENST00000675483.1:n.439+7C>G | ||
| ENST00000675512.1:c.*313+7C>G | ENSP00000502630.1:n.*313+7C>G | |
| ENST00000675817.1:c.311+7C>G | ENSP00000502422.1:n.311+7C>G | |
| ENST00000675872.1:n.562+7C>G | ||
| ENST00000675919.1:c.311+7C>G | ENSP00000501776.1:n.311+7C>G | |
| ENST00000675959.1:n.708+7C>G | ||
| ENST00000675987.1:c.311+7C>G | ENSP00000502145.1:n.311+7C>G | |
| ENST00000676293.1:c.311+7C>G | ENSP00000502362.1:n.311+7C>G | |
| ENST00000676426.1:c.311+7C>G | ENSP00000502359.1:n.311+7C>G | |
| ENST00000235329.9:c.311+7C>G | ENSP00000235329.5:n.311+7C>G | |
| ENST00000444836.5:c.311+7C>G | ENSP00000416338.1:n.311+7C>G | |
| NM_001127660.1:c.311+7C>G | NP_001121132.1:n.311+7C>G | |
| NM_014874.3:c.311+7C>G , LRG_255t1:c.311+7C>G | NP_055689.1:n.311+7C>G | |
| XM_005263543.2:c.311+7C>G | XP_005263600.1:n.311+7C>G | |
| XM_005263545.2:c.311+7C>G | XP_005263602.1:n.311+7C>G | |
| XM_005263547.2:c.311+7C>G | XP_005263604.1:n.311+7C>G | |
| XM_005263548.2:c.311+7C>G | XP_005263605.1:n.311+7C>G | |
| XM_005263543.3:c.311+7C>G | XP_005263600.1:n.311+7C>G | |
| XM_005263545.3:c.311+7C>G | XP_005263602.1:n.311+7C>G | |
| XM_005263547.3:c.311+7C>G | XP_005263604.1:n.311+7C>G | |
| XM_005263548.3:c.311+7C>G | XP_005263605.1:n.311+7C>G | |
| XM_024451299.1:c.311+7C>G | XP_024307067.1:n.311+7C>G | |
| NM_014874.4:c.311+7C>G MANE Select | NP_055689.1:n.311+7C>G | |
| NM_001127660.2:c.311+7C>G | NP_001121132.1:n.311+7C>G |