Linked Data
ClinVar Variation Id:
940001
ClinVar RCV Id:
RCV001209491
dbSNP Id:
rs774307690
ExAC:
10:88459045 G / A
gnomAD v2:
10-88459045-G-A
gnomAD v3:
10-86699288-G-A
gnomAD v4:
10-86699288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86699288G>A , CM000672.2:g.86699288G>A | GRCh38 |
| NC_000010.10:g.88459045G>A , CM000672.1:g.88459045G>A | GRCh37 |
| NC_000010.9:g.88449025G>A | NCBI36 |
| NG_008876.1:g.35725G>A , LRG_385:g.35725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443292.2:c.2416G>A | ENSP00000393132.2:p.Glu806Lys | |
| ENST00000685347.1:n.2378G>A | ||
| ENST00000687154.1:n.514+6717G>A | ||
| ENST00000687598.1:n.2867G>A | ||
| ENST00000688001.1:c.896+6717G>A | ENSP00000508987.1:n.896+6717G>A | |
| ENST00000688678.1:c.897-150G>A | ENSP00000510048.1:n.897-150G>A | |
| ENST00000688785.1:c.562G>A | ENSP00000509572.1:p.Glu188Lys | |
| ENST00000689296.1:c.896+6717G>A | ENSP00000510609.1:n.896+6717G>A | |
| ENST00000689740.1:c.755+6717G>A | ENSP00000510300.1:n.755+6717G>A | |
| ENST00000691462.1:c.562G>A | ENSP00000509930.1:p.Glu188Lys | |
| ENST00000692941.1:n.2999G>A | ||
| ENST00000693680.1:c.755+6717G>A | ENSP00000509539.1:n.755+6717G>A | |
| ENST00000263066.11:c.766G>A MANE Plus Clinical | ENSP00000263066.7:p.Glu256Lys | |
| ENST00000361373.9:c.896+6717G>A MANE Select | ENSP00000355296.3:n.896+6717G>A | |
| ENST00000372066.8:c.766G>A | ENSP00000361136.3:p.Glu256Lys | |
| ENST00000429277.7:c.755+6717G>A | ENSP00000401437.3:n.755+6717G>A | |
| ENST00000542786.2:c.1134G>A | ENSP00000438866.1:n.1134G>A | |
| ENST00000623056.4:c.1100+6717G>A | ENSP00000485500.1:n.1100+6717G>A | |
| ENST00000263066.10:c.755+6717G>A | ENSP00000263066.6:n.755+6717G>A | |
| ENST00000361373.8:c.896+6717G>A | ENSP00000355296.3:n.896+6717G>A | |
| ENST00000372056.8:c.1111G>A | ENSP00000361126.4:p.Glu371Lys | |
| ENST00000372066.7:c.766G>A | ENSP00000361136.3:p.Glu256Lys | |
| ENST00000429277.6:c.1100+6717G>A | ENSP00000401437.2:n.1100+6717G>A | |
| ENST00000542786.1:c.1134G>A | ENSP00000438866.1:n.1134G>A | |
| ENST00000623007.3:c.907G>A | ENSP00000485389.1:p.Glu303Lys | |
| ENST00000623056.3:c.1100+6717G>A | ENSP00000485500.1:n.1100+6717G>A | |
| NM_001080114.1:c.755+6717G>A | NP_001073583.1:n.755+6717G>A | |
| NM_001080115.1:c.907G>A | NP_001073584.1:p.Glu303Lys | |
| NM_001080116.1:c.766G>A , LRG_385t2:c.766G>A | NP_001073585.1:p.Glu256Lys | |
| NM_001171610.1:c.1100+6717G>A | NP_001165081.1:n.1100+6717G>A | |
| NM_001171611.1:c.1111G>A | NP_001165082.1:p.Glu371Lys | |
| NM_007078.2:c.896+6717G>A , LRG_385t1:c.896+6717G>A | NP_009009.1:n.896+6717G>A | |
| XM_005269464.3:c.896+6717G>A | XP_005269521.1:n.896+6717G>A | |
| XM_005269466.3:c.896+6717G>A | XP_005269523.1:n.896+6717G>A | |
| XM_005269468.3:c.907G>A | XP_005269525.1:p.Glu303Lys | |
| XM_011539184.1:c.1100+6717G>A | XP_011537486.1:n.1100+6717G>A | |
| XM_011539185.1:c.1100+6717G>A | XP_011537487.1:n.1100+6717G>A | |
| XM_011539186.1:c.1100+6717G>A | XP_011537488.1:n.1100+6717G>A | |
| XM_011539187.1:c.1100+6717G>A | XP_011537489.1:n.1100+6717G>A | |
| XM_011539188.1:c.896+6717G>A | XP_011537490.1:n.896+6717G>A | |
| XM_011539189.1:c.755+6717G>A | XP_011537491.1:n.755+6717G>A | |
| XM_011539190.1:c.755+6717G>A | XP_011537492.1:n.755+6717G>A | |
| XM_011539191.1:c.566+6717G>A | XP_011537493.1:n.566+6717G>A | |
| XM_011539192.1:c.551+6717G>A | XP_011537494.1:n.551+6717G>A | |
| XM_011539193.1:c.56+6717G>A | XP_011537495.1:n.56+6717G>A | |
| XM_011539194.1:c.56+6717G>A | XP_011537496.1:n.56+6717G>A | |
| XM_011539195.1:c.1111G>A | XP_011537497.1:p.Glu371Lys | |
| XM_005269464.4:c.896+6717G>A | XP_005269521.1:n.896+6717G>A | |
| XM_005269466.4:c.896+6717G>A | XP_005269523.1:n.896+6717G>A | |
| XM_005269468.4:c.907G>A | XP_005269525.1:p.Glu303Lys | |
| XM_011539184.2:c.1100+6717G>A | XP_011537486.1:n.1100+6717G>A | |
| XM_011539185.2:c.1100+6717G>A | XP_011537487.1:n.1100+6717G>A | |
| XM_011539186.2:c.1100+6717G>A | XP_011537488.1:n.1100+6717G>A | |
| XM_011539187.2:c.1100+6717G>A | XP_011537489.1:n.1100+6717G>A | |
| XM_011539188.2:c.896+6717G>A | XP_011537490.1:n.896+6717G>A | |
| XM_011539190.2:c.755+6717G>A | XP_011537492.1:n.755+6717G>A | |
| XM_011539191.2:c.566+6717G>A | XP_011537493.1:n.566+6717G>A | |
| XM_011539195.2:c.1111G>A | XP_011537497.1:p.Glu371Lys | |
| XM_017015606.1:c.896+6717G>A | XP_016871095.1:n.896+6717G>A | |
| XM_017015607.1:c.56+6717G>A | XP_016871096.1:n.56+6717G>A | |
| XM_017015608.1:c.907G>A | XP_016871097.1:p.Glu303Lys | |
| XM_017015609.1:c.766G>A | XP_016871098.1:p.Glu256Lys | |
| XM_024447785.1:c.755+6717G>A | XP_024303553.1:n.755+6717G>A | |
| XM_024447786.1:c.755+6717G>A | XP_024303554.1:n.755+6717G>A | |
| XM_024447787.1:c.766G>A | XP_024303555.1:p.Glu256Lys | |
| NM_001080114.2:c.755+6717G>A | NP_001073583.1:n.755+6717G>A | |
| NM_001080115.2:c.907G>A | NP_001073584.1:p.Glu303Lys | |
| NM_001171610.2:c.1100+6717G>A | NP_001165081.1:n.1100+6717G>A | |
| NM_001171611.2:c.1111G>A | NP_001165082.1:p.Glu371Lys | |
| NM_001368063.1:c.907G>A | NP_001354992.1:p.Glu303Lys | |
| NM_001368064.1:c.896+6717G>A | NP_001354993.1:n.896+6717G>A | |
| NM_001368065.1:c.896+6717G>A | NP_001354994.1:n.896+6717G>A | |
| NM_001368066.1:c.755+6717G>A | NP_001354995.1:n.755+6717G>A | |
| NM_001368067.1:c.766G>A MANE Plus Clinical | NP_001354996.1:p.Glu256Lys | |
| NM_001368068.1:c.766G>A | NP_001354997.1:p.Glu256Lys | |
| NM_007078.3:c.896+6717G>A MANE Select | NP_009009.1:n.896+6717G>A |