Linked Data
ClinVar Variation Id:
3001174
ClinVar RCV Id:
RCV003852317
dbSNP Id:
rs1468505335
gnomAD v3:
1-29196191-A-G
gnomAD v4:
1-29196191-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.29196191A>G , CM000663.2:g.29196191A>G | GRCh38 |
| NC_000001.10:g.29522703A>G , CM000663.1:g.29522703A>G | GRCh37 |
| NC_000001.9:g.29395290A>G | NCBI36 |
| NG_053058.1:g.39768T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263702.11:c.891+7T>C MANE Select | ENSP00000263702.6:n.891+7T>C | |
| ENST00000263702.10:c.891+7T>C | ENSP00000263702.6:n.891+7T>C | |
| ENST00000373791.7:c.663+7T>C | ENSP00000362896.3:n.663+7T>C | |
| ENST00000453185.5:n.553+7T>C | ||
| ENST00000463412.1:c.517T>C | ENSP00000436831.1:p.Trp173Arg | |
| ENST00000473030.5:n.540+7T>C | ||
| ENST00000475773.5:n.309+7T>C | ||
| ENST00000478505.6:n.790+7T>C | ||
| ENST00000483435.5:n.135+7T>C | ||
| ENST00000490529.5:n.783T>C | ||
| NM_001024732.2:c.663+7T>C | NP_001019903.2:n.663+7T>C | |
| NM_016011.3:c.891+7T>C | NP_057095.3:n.891+7T>C | |
| XM_005245885.1:c.975+7T>C | XP_005245942.1:n.975+7T>C | |
| XM_005245887.1:c.663+7T>C | XP_005245944.1:n.663+7T>C | |
| XM_011541539.1:c.1120+7T>C | XP_011539841.1:n.1120+7T>C | |
| XM_011541540.1:c.1036+7T>C | XP_011539842.1:n.1036+7T>C | |
| XM_011541541.1:c.975+7T>C | XP_011539843.1:n.975+7T>C | |
| XM_011541542.1:c.808+7T>C | XP_011539844.1:n.808+7T>C | |
| XM_011541543.1:c.808+7T>C | XP_011539845.1:n.808+7T>C | |
| XM_011541544.1:c.808+7T>C | XP_011539846.1:n.808+7T>C | |
| XM_011541545.1:c.808+7T>C | XP_011539847.1:n.808+7T>C | |
| XM_011541546.1:c.808+7T>C | XP_011539848.1:n.808+7T>C | |
| XM_011541547.1:c.808+7T>C | XP_011539849.1:n.808+7T>C | |
| XM_011541548.1:c.808+7T>C | XP_011539850.1:n.808+7T>C | |
| XM_011541549.1:c.808+7T>C | XP_011539851.1:n.808+7T>C | |
| XM_011541550.1:c.808+7T>C | XP_011539852.1:n.808+7T>C | |
| XM_011541551.1:c.808+7T>C | XP_011539853.1:n.808+7T>C | |
| XM_011541552.1:c.808+7T>C | XP_011539854.1:n.808+7T>C | |
| XM_011541553.1:c.808+7T>C | XP_011539855.1:n.808+7T>C | |
| XM_011541554.1:c.808+7T>C | XP_011539856.1:n.808+7T>C | |
| XR_946662.1:n.1138+7T>C | ||
| XR_946663.1:n.1138+7T>C | ||
| XR_946664.1:n.890+7T>C | ||
| NM_001024732.3:c.663+7T>C | NP_001019903.3:n.663+7T>C | |
| NM_001349711.1:c.663+7T>C | NP_001336640.1:n.663+7T>C | |
| NM_001349712.1:c.663+7T>C | NP_001336641.1:n.663+7T>C | |
| NM_001349713.1:c.663+7T>C | NP_001336642.1:n.663+7T>C | |
| NM_001349714.1:c.663+7T>C | NP_001336643.1:n.663+7T>C | |
| NM_001349715.1:c.996+7T>C | NP_001336644.1:n.996+7T>C | |
| NM_001349716.1:c.975+7T>C | NP_001336645.1:n.975+7T>C | |
| NM_001349717.1:c.741+7T>C | NP_001336646.1:n.741+7T>C | |
| NM_016011.4:c.891+7T>C | NP_057095.4:n.891+7T>C | |
| NR_146212.1:n.1176+7T>C | ||
| NR_146213.1:n.943+7T>C | ||
| NR_146214.1:n.1196+7T>C | ||
| NR_146215.1:n.1070+7T>C | ||
| XM_011541540.2:c.1036+7T>C | XP_011539842.1:n.1036+7T>C | |
| XM_017001411.1:c.808+7T>C | XP_016856900.1:n.808+7T>C | |
| XM_017001412.1:c.808+7T>C | XP_016856901.1:n.808+7T>C | |
| XM_017001413.1:c.663+7T>C | XP_016856902.1:n.663+7T>C | |
| XM_017001416.1:c.663+7T>C | XP_016856905.1:n.663+7T>C | |
| XM_024447442.1:c.663+7T>C | XP_024303210.1:n.663+7T>C | |
| XM_024447443.1:c.663+7T>C | XP_024303211.1:n.663+7T>C | |
| XM_024447444.1:c.663+7T>C | XP_024303212.1:n.663+7T>C | |
| XM_024447446.1:c.663+7T>C | XP_024303214.1:n.663+7T>C | |
| XM_024447448.1:c.663+7T>C | XP_024303216.1:n.663+7T>C | |
| XM_024447450.1:c.663+7T>C | XP_024303218.1:n.663+7T>C | |
| XM_024447452.1:c.663+7T>C | XP_024303220.1:n.663+7T>C | |
| XR_001737209.1:n.1244+7T>C | ||
| XR_001737210.1:n.1513+7T>C | ||
| XR_002956765.1:n.1048T>C | ||
| XR_946663.2:n.1138+7T>C | ||
| NM_001024732.4:c.663+7T>C | NP_001019903.3:n.663+7T>C | |
| NM_001349711.2:c.663+7T>C | NP_001336640.1:n.663+7T>C | |
| NM_001349712.2:c.663+7T>C | NP_001336641.1:n.663+7T>C | |
| NM_001349713.2:c.663+7T>C | NP_001336642.1:n.663+7T>C | |
| NM_001349714.2:c.663+7T>C | NP_001336643.1:n.663+7T>C | |
| NM_001349715.2:c.996+7T>C | NP_001336644.1:n.996+7T>C | |
| NM_001349716.2:c.975+7T>C | NP_001336645.1:n.975+7T>C | |
| NM_001349717.2:c.741+7T>C | NP_001336646.1:n.741+7T>C | |
| NM_016011.5:c.891+7T>C MANE Select | NP_057095.4:n.891+7T>C | |
| NR_146212.2:n.1152+7T>C | ||
| NR_146213.2:n.919+7T>C | ||
| NR_146214.2:n.1172+7T>C | ||
| NR_146215.2:n.1046+7T>C |