Linked Data
ClinVar Variation Id:
1164946
ClinVar RCV Id:
RCV001511589
dbSNP Id:
rs12268910
ExAC:
10:111878510 T / G
gnomAD v2:
10-111878510-T-G
gnomAD v3:
10-110118752-T-G
gnomAD v4:
10-110118752-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110118752T>G , CM000672.2:g.110118752T>G | GRCh38 |
| NC_000010.10:g.111878510T>G , CM000672.1:g.111878510T>G | GRCh37 |
| NC_000010.9:g.111868500T>G | NCBI36 |
| NG_051033.1:g.127403T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356080.9:c.717+16T>G MANE Select | ENSP00000348381.4:n.717+16T>G | |
| ENST00000277900.12:c.717+16T>G | ENSP00000277900.8:n.717+16T>G | |
| ENST00000356080.8:c.717+16T>G | ENSP00000348381.4:n.717+16T>G | |
| ENST00000360162.7:c.717+16T>G | ENSP00000353286.3:n.717+16T>G | |
| ENST00000486014.1:n.111-3461T>G | ||
| ENST00000611329.1:c.717+16T>G | ENSP00000480646.1:n.717+16T>G | |
| NM_001121.2:c.717+16T>G | NP_001112.2:n.717+16T>G | |
| NM_016824.3:c.717+16T>G | NP_058432.1:n.717+16T>G | |
| NM_019903.3:c.717+16T>G | NP_063968.1:n.717+16T>G | |
| XM_005269529.1:c.717+16T>G | XP_005269586.1:n.717+16T>G | |
| XM_005269530.1:c.717+16T>G | XP_005269587.1:n.717+16T>G | |
| XM_005269531.3:c.717+16T>G | XP_005269588.1:n.717+16T>G | |
| XM_005269533.1:c.717+16T>G | XP_005269590.1:n.717+16T>G | |
| XM_005269534.3:c.717+16T>G | XP_005269591.1:n.717+16T>G | |
| XM_005269535.1:c.483+16T>G | XP_005269592.1:n.483+16T>G | |
| XM_006717626.1:c.717+16T>G | XP_006717689.1:n.717+16T>G | |
| XM_006717627.1:c.717+16T>G | XP_006717690.1:n.717+16T>G | |
| XM_006717628.2:c.717+16T>G | XP_006717691.1:n.717+16T>G | |
| XM_006717629.1:c.483+16T>G | XP_006717692.1:n.483+16T>G | |
| XM_011539287.1:c.717+16T>G | XP_011537589.1:n.717+16T>G | |
| XM_011539288.1:c.717+16T>G | XP_011537590.1:n.717+16T>G | |
| XM_011539289.1:c.-10+16T>G | XP_011537591.1:n.-10+16T>G | |
| XM_011539290.1:c.-10+16T>G | XP_011537592.1:n.-10+16T>G | |
| NM_001121.3:c.717+16T>G | NP_001112.2:n.717+16T>G | |
| NM_001320591.1:c.717+16T>G | NP_001307520.1:n.717+16T>G | |
| NM_001320592.1:c.717+16T>G | NP_001307521.1:n.717+16T>G | |
| NM_001320593.1:c.717+16T>G | NP_001307522.1:n.717+16T>G | |
| NM_001320594.1:c.483+16T>G | NP_001307523.1:n.483+16T>G | |
| NM_016824.4:c.717+16T>G | NP_058432.1:n.717+16T>G | |
| NM_019903.4:c.717+16T>G | NP_063968.1:n.717+16T>G | |
| XM_024447794.1:c.717+16T>G | XP_024303562.1:n.717+16T>G | |
| XM_024447795.1:c.717+16T>G | XP_024303563.1:n.717+16T>G | |
| XM_024447796.1:c.717+16T>G | XP_024303564.1:n.717+16T>G | |
| XM_024447797.1:c.717+16T>G | XP_024303565.1:n.717+16T>G | |
| XM_024447798.1:c.717+16T>G | XP_024303566.1:n.717+16T>G | |
| XM_024447799.1:c.717+16T>G | XP_024303567.1:n.717+16T>G | |
| XM_024447800.1:c.717+16T>G | XP_024303568.1:n.717+16T>G | |
| XM_024447801.1:c.717+16T>G | XP_024303569.1:n.717+16T>G | |
| XM_024447802.1:c.717+16T>G | XP_024303570.1:n.717+16T>G | |
| XM_024447803.1:c.717+16T>G | XP_024303571.1:n.717+16T>G | |
| XM_024447804.1:c.717+16T>G | XP_024303572.1:n.717+16T>G | |
| XM_024447805.1:c.717+16T>G | XP_024303573.1:n.717+16T>G | |
| XM_024447806.1:c.717+16T>G | XP_024303574.1:n.717+16T>G | |
| XM_024447807.1:c.717+16T>G | XP_024303575.1:n.717+16T>G | |
| XM_024447808.1:c.483+16T>G | XP_024303576.1:n.483+16T>G | |
| XM_024447809.1:c.483+16T>G | XP_024303577.1:n.483+16T>G | |
| XM_024447810.1:c.483+16T>G | XP_024303578.1:n.483+16T>G | |
| XM_024447811.1:c.-10+16T>G | XP_024303579.1:n.-10+16T>G | |
| XM_024447812.1:c.-10+16T>G | XP_024303580.1:n.-10+16T>G | |
| XM_024447813.1:c.-468T>G | XP_024303581.1:n.-468T>G | |
| XM_024447814.1:c.-468T>G | XP_024303582.1:n.-468T>G | |
| NM_001121.4:c.717+16T>G | NP_001112.2:n.717+16T>G | |
| NM_001320591.2:c.717+16T>G | NP_001307520.1:n.717+16T>G | |
| NM_001320592.2:c.717+16T>G | NP_001307521.1:n.717+16T>G | |
| NM_001320593.2:c.717+16T>G | NP_001307522.1:n.717+16T>G | |
| NM_001320594.2:c.483+16T>G | NP_001307523.1:n.483+16T>G | |
| NM_016824.5:c.717+16T>G MANE Select | NP_058432.1:n.717+16T>G | |
| NM_019903.5:c.717+16T>G | NP_063968.1:n.717+16T>G |