Linked Data
ClinVar Variation Id:
412595
dbSNP Id:
rs1060503800
gnomAD v3:
11-10031043-T-C
gnomAD v4:
11-10031043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10031043T>C , CM000673.2:g.10031043T>C | GRCh38 |
| NC_000011.9:g.10052590T>C , CM000673.1:g.10052590T>C | GRCh37 |
| NC_000011.8:g.10009166T>C | NCBI36 |
| NG_008074.1:g.268165A>G , LRG_267:g.268165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526353.2:n.552+5A>G | ||
| ENST00000527019.6:n.349+5A>G | ||
| ENST00000533661.2:n.358+5A>G | ||
| ENST00000533770.6:c.402+5A>G | ENSP00000509247.1:n.402+5A>G | |
| ENST00000675281.2:c.402+5A>G | ENSP00000502491.1:n.402+5A>G | |
| ENST00000676324.2:c.402+5A>G | ENSP00000502578.1:n.402+5A>G | |
| ENST00000676387.2:c.402+5A>G | ENSP00000502779.1:n.402+5A>G | |
| ENST00000685217.1:n.733+5A>G | ||
| ENST00000686079.1:c.402+5A>G | ENSP00000509599.1:n.402+5A>G | |
| ENST00000687210.1:c.402+5A>G | ENSP00000509480.1:n.402+5A>G | |
| ENST00000687256.1:c.402+5A>G | ENSP00000508741.1:n.402+5A>G | |
| ENST00000687300.1:c.402+5A>G | ENSP00000508415.1:n.402+5A>G | |
| ENST00000688206.1:c.402+5A>G | ENSP00000510516.1:n.402+5A>G | |
| ENST00000688344.1:c.123+5A>G | ENSP00000509987.1:n.123+5A>G | |
| ENST00000688417.1:n.552+5A>G | ||
| ENST00000688739.1:c.*181+5A>G | ENSP00000510449.1:n.*181+5A>G | |
| ENST00000689128.1:c.402+5A>G | ENSP00000509587.1:n.402+5A>G | |
| ENST00000689258.1:c.264+5A>G | ENSP00000510475.1:n.264+5A>G | |
| ENST00000689940.1:c.402+5A>G | ENSP00000508452.1:n.402+5A>G | |
| ENST00000692716.1:c.402+5A>G | ENSP00000509545.1:n.402+5A>G | |
| ENST00000693022.1:c.402+5A>G | ENSP00000508914.1:n.402+5A>G | |
| ENST00000693201.1:c.365+42A>G | ENSP00000510346.1:n.365+42A>G | |
| ENST00000693212.1:c.402+5A>G | ENSP00000510716.1:n.402+5A>G | |
| ENST00000256190.13:c.402+5A>G MANE Select | ENSP00000256190.8:n.402+5A>G | |
| ENST00000675281.1:c.402+5A>G | ENSP00000502491.1:n.402+5A>G | |
| ENST00000676324.1:c.402+5A>G | ENSP00000502578.1:n.402+5A>G | |
| ENST00000676387.1:c.402+5A>G | ENSP00000502779.1:n.402+5A>G | |
| ENST00000256190.12:c.402+5A>G | ENSP00000256190.8:n.402+5A>G | |
| ENST00000527019.5:n.349+5A>G | ||
| ENST00000533661.1:n.270+5A>G | ||
| ENST00000533770.5:n.317+5A>G | ||
| ENST00000617179.4:c.261+5A>G | ENSP00000482806.1:n.261+5A>G | |
| NM_030962.3:c.402+5A>G , LRG_267t1:c.402+5A>G | NP_112224.1:n.402+5A>G | |
| XM_005253154.3:c.402+5A>G | XP_005253211.1:n.402+5A>G | |
| XM_005253155.3:c.402+5A>G | XP_005253212.1:n.402+5A>G | |
| XM_011520394.1:c.402+5A>G | XP_011518696.1:n.402+5A>G | |
| XM_011520395.1:c.402+5A>G | XP_011518697.1:n.402+5A>G | |
| XM_011520396.1:c.402+5A>G | XP_011518698.1:n.402+5A>G | |
| XM_005253154.5:c.402+5A>G | XP_005253211.1:n.402+5A>G | |
| XM_005253155.5:c.402+5A>G | XP_005253212.1:n.402+5A>G | |
| XM_011520394.3:c.402+5A>G | XP_011518696.1:n.402+5A>G | |
| XM_011520395.3:c.402+5A>G | XP_011518697.1:n.402+5A>G | |
| XM_011520396.3:c.402+5A>G | XP_011518698.1:n.402+5A>G | |
| XM_017018372.2:c.264+5A>G | XP_016873861.1:n.264+5A>G | |
| XM_017018373.2:c.264+5A>G | XP_016873862.1:n.264+5A>G | |
| XM_017018374.2:c.402+5A>G | XP_016873863.1:n.402+5A>G | |
| XM_017018375.2:c.402+5A>G | XP_016873864.1:n.402+5A>G | |
| XM_017018376.2:c.402+5A>G | XP_016873865.1:n.402+5A>G | |
| XM_017018377.2:c.402+5A>G | XP_016873866.1:n.402+5A>G | |
| XR_001747994.2:n.540+5A>G | ||
| NM_001386339.1:c.402+5A>G | NP_001373268.1:n.402+5A>G | |
| NM_001386342.1:c.402+5A>G | NP_001373271.1:n.402+5A>G | |
| NM_030962.4:c.402+5A>G MANE Select | NP_112224.1:n.402+5A>G |