Linked Data
ClinVar Variation Id:
543508
dbSNP Id:
rs368118378
ExAC:
11:10052722 A / G
gnomAD v2:
11-10052722-A-G
gnomAD v3:
11-10031175-A-G
gnomAD v4:
11-10031175-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10031175A>G , CM000673.2:g.10031175A>G | GRCh38 |
| NC_000011.9:g.10052722A>G , CM000673.1:g.10052722A>G | GRCh37 |
| NC_000011.8:g.10009298A>G | NCBI36 |
| NG_008074.1:g.268033T>C , LRG_267:g.268033T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526353.2:n.430-5T>C | ||
| ENST00000527019.6:n.227-5T>C | ||
| ENST00000533661.2:n.236-5T>C | ||
| ENST00000533770.6:c.280-5T>C | ENSP00000509247.1:n.280-5T>C | |
| ENST00000675281.2:c.280-5T>C | ENSP00000502491.1:n.280-5T>C | |
| ENST00000676324.2:c.280-5T>C | ENSP00000502578.1:n.280-5T>C | |
| ENST00000676387.2:c.280-5T>C | ENSP00000502779.1:n.280-5T>C | |
| ENST00000685217.1:n.611-5T>C | ||
| ENST00000686079.1:c.280-5T>C | ENSP00000509599.1:n.280-5T>C | |
| ENST00000687210.1:c.280-5T>C | ENSP00000509480.1:n.280-5T>C | |
| ENST00000687256.1:c.280-5T>C | ENSP00000508741.1:n.280-5T>C | |
| ENST00000687300.1:c.280-5T>C | ENSP00000508415.1:n.280-5T>C | |
| ENST00000688206.1:c.280-5T>C | ENSP00000510516.1:n.280-5T>C | |
| ENST00000688417.1:n.430-5T>C | ||
| ENST00000688739.1:c.*59-5T>C | ENSP00000510449.1:n.*59-5T>C | |
| ENST00000689128.1:c.280-5T>C | ENSP00000509587.1:n.280-5T>C | |
| ENST00000689258.1:c.142-5T>C | ENSP00000510475.1:n.142-5T>C | |
| ENST00000689940.1:c.280-5T>C | ENSP00000508452.1:n.280-5T>C | |
| ENST00000690806.1:c.*215-5T>C | ENSP00000509417.1:n.*215-5T>C | |
| ENST00000692716.1:c.280-5T>C | ENSP00000509545.1:n.280-5T>C | |
| ENST00000693022.1:c.280-5T>C | ENSP00000508914.1:n.280-5T>C | |
| ENST00000693201.1:c.280-5T>C | ENSP00000510346.1:n.280-5T>C | |
| ENST00000693212.1:c.280-5T>C | ENSP00000510716.1:n.280-5T>C | |
| ENST00000256190.13:c.280-5T>C MANE Select | ENSP00000256190.8:n.280-5T>C | |
| ENST00000675281.1:c.280-5T>C | ENSP00000502491.1:n.280-5T>C | |
| ENST00000676324.1:c.280-5T>C | ENSP00000502578.1:n.280-5T>C | |
| ENST00000676387.1:c.280-5T>C | ENSP00000502779.1:n.280-5T>C | |
| ENST00000256190.12:c.280-5T>C | ENSP00000256190.8:n.280-5T>C | |
| ENST00000527019.5:n.227-5T>C | ||
| ENST00000533661.1:n.148-5T>C | ||
| ENST00000533770.5:n.195-5T>C | ||
| ENST00000617179.4:c.139-5T>C | ENSP00000482806.1:n.139-5T>C | |
| NM_030962.3:c.280-5T>C , LRG_267t1:c.280-5T>C | NP_112224.1:n.280-5T>C | |
| XM_005253154.3:c.280-5T>C | XP_005253211.1:n.280-5T>C | |
| XM_005253155.3:c.280-5T>C | XP_005253212.1:n.280-5T>C | |
| XM_011520394.1:c.280-5T>C | XP_011518696.1:n.280-5T>C | |
| XM_011520395.1:c.280-5T>C | XP_011518697.1:n.280-5T>C | |
| XM_011520396.1:c.280-5T>C | XP_011518698.1:n.280-5T>C | |
| XM_005253154.5:c.280-5T>C | XP_005253211.1:n.280-5T>C | |
| XM_005253155.5:c.280-5T>C | XP_005253212.1:n.280-5T>C | |
| XM_011520394.3:c.280-5T>C | XP_011518696.1:n.280-5T>C | |
| XM_011520395.3:c.280-5T>C | XP_011518697.1:n.280-5T>C | |
| XM_011520396.3:c.280-5T>C | XP_011518698.1:n.280-5T>C | |
| XM_017018372.2:c.142-5T>C | XP_016873861.1:n.142-5T>C | |
| XM_017018373.2:c.142-5T>C | XP_016873862.1:n.142-5T>C | |
| XM_017018374.2:c.280-5T>C | XP_016873863.1:n.280-5T>C | |
| XM_017018375.2:c.280-5T>C | XP_016873864.1:n.280-5T>C | |
| XM_017018376.2:c.280-5T>C | XP_016873865.1:n.280-5T>C | |
| XM_017018377.2:c.280-5T>C | XP_016873866.1:n.280-5T>C | |
| XR_001747994.2:n.418-5T>C | ||
| NM_001386339.1:c.280-5T>C | NP_001373268.1:n.280-5T>C | |
| NM_001386342.1:c.280-5T>C | NP_001373271.1:n.280-5T>C | |
| NM_030962.4:c.280-5T>C MANE Select | NP_112224.1:n.280-5T>C |