Linked Data
ClinVar Variation Id:
128969
dbSNP Id:
rs9349626
ExAC:
6:52303399 A / G
gnomAD v2:
6-52303399-A-G
gnomAD v3:
6-52438601-A-G
gnomAD v4:
6-52438601-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52438601A>G , CM000668.2:g.52438601A>G | GRCh38 |
| NC_000006.11:g.52303399A>G , CM000668.1:g.52303399A>G | GRCh37 |
| NC_000006.10:g.52411358A>G | NCBI36 |
| NG_016760.1:g.23406A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.573+10A>G MANE Select | ENSP00000360107.4:n.573+10A>G | |
| ENST00000480623.6:c.573+10A>G | ENSP00000434498.2:n.573+10A>G | |
| ENST00000635760.1:c.249+10A>G | ENSP00000489765.1:n.249+10A>G | |
| ENST00000635812.1:c.573+10A>G | ENSP00000490859.1:n.573+10A>G | |
| ENST00000635866.1:c.*442+10A>G | ENSP00000489866.1:n.*442+10A>G | |
| ENST00000635911.1:n.834+10A>G | ||
| ENST00000635984.1:c.249+10A>G | ENSP00000489921.1:n.249+10A>G | |
| ENST00000635996.1:c.573+10A>G | ENSP00000490256.1:n.573+10A>G | |
| ENST00000636107.1:c.573+10A>G | ENSP00000489680.1:n.573+10A>G | |
| ENST00000636253.1:n.227+10A>G | ||
| ENST00000636311.1:n.467+147A>G | ||
| ENST00000636343.1:c.239+10A>G | ||
| ENST00000636379.1:c.286-14087A>G | ENSP00000490622.1:n.286-14087A>G | |
| ENST00000636398.1:c.240+10A>G | ENSP00000489654.1:n.240+10A>G | |
| ENST00000636489.1:c.516+10A>G | ENSP00000489998.1:n.516+10A>G | |
| ENST00000636702.1:c.543+10A>G | ENSP00000489623.1:n.543+10A>G | |
| ENST00000636954.1:c.516+10A>G | ENSP00000489966.1:n.516+10A>G | |
| ENST00000637089.1:c.573+10A>G | ENSP00000489854.1:n.573+10A>G | |
| ENST00000637200.1:c.*589+10A>G | ENSP00000490567.1:n.*589+10A>G | |
| ENST00000637263.1:c.573+10A>G | ENSP00000489700.1:n.573+10A>G | |
| ENST00000637340.1:n.1241+10A>G | ||
| ENST00000637353.1:c.573+10A>G | ENSP00000490441.1:n.573+10A>G | |
| ENST00000637602.1:c.*274+10A>G | ENSP00000490074.1:n.*274+10A>G | |
| ENST00000637849.1:n.637+10A>G | ||
| ENST00000637892.1:n.777+10A>G | ||
| ENST00000638075.1:c.-46+10A>G | ENSP00000490711.1:n.-46+10A>G | |
| ENST00000371068.9:c.573+10A>G | ENSP00000360107.4:n.573+10A>G | |
| ENST00000480623.5:c.573+10A>G | ENSP00000434498.1:n.573+10A>G | |
| ENST00000538167.2:c.516+10A>G | ENSP00000444521.1:n.516+10A>G | |
| NM_001172420.1:c.516+10A>G | NP_001165891.1:n.516+10A>G | |
| NM_018100.3:c.573+10A>G | NP_060570.2:n.573+10A>G | |
| NR_033327.1:n.788+10A>G | ||
| NM_018100.4:c.573+10A>G MANE Select | NP_060570.2:n.573+10A>G | |
| NM_001172420.2:c.516+10A>G | NP_001165891.1:n.516+10A>G | |
| NR_033327.2:n.642+10A>G |