Linked Data
ClinVar Variation Id:
301874
dbSNP Id:
rs770141264
ExAC:
11:10050116 G / A
gnomAD v2:
11-10050116-G-A
gnomAD v3:
11-10028569-G-A
gnomAD v4:
11-10028569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10028569G>A , CM000673.2:g.10028569G>A | GRCh38 |
| NC_000011.9:g.10050116G>A , CM000673.1:g.10050116G>A | GRCh37 |
| NC_000011.8:g.10006692G>A | NCBI36 |
| NG_008074.1:g.270639C>T , LRG_267:g.270639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526353.2:n.664-12C>T | ||
| ENST00000527019.6:n.461-12C>T | ||
| ENST00000533661.2:n.470-12C>T | ||
| ENST00000533770.6:c.514-12C>T | ENSP00000509247.1:n.514-12C>T | |
| ENST00000675281.2:c.514-12C>T | ENSP00000502491.1:n.514-12C>T | |
| ENST00000676324.2:c.514-12C>T | ENSP00000502578.1:n.514-12C>T | |
| ENST00000676387.2:c.514-12C>T | ENSP00000502779.1:n.514-12C>T | |
| ENST00000685217.1:n.845-12C>T | ||
| ENST00000686079.1:c.514-12C>T | ENSP00000509599.1:n.514-12C>T | |
| ENST00000687210.1:c.514-12C>T | ENSP00000509480.1:n.514-12C>T | |
| ENST00000687256.1:c.514-12C>T | ENSP00000508741.1:n.514-12C>T | |
| ENST00000687300.1:c.514-12C>T | ENSP00000508415.1:n.514-12C>T | |
| ENST00000688206.1:c.514-12C>T | ENSP00000510516.1:n.514-12C>T | |
| ENST00000688344.1:c.235-12C>T | ENSP00000509987.1:n.235-12C>T | |
| ENST00000688417.1:n.664-12C>T | ||
| ENST00000689128.1:c.514-12C>T | ENSP00000509587.1:n.514-12C>T | |
| ENST00000689258.1:c.376-12C>T | ENSP00000510475.1:n.376-12C>T | |
| ENST00000689940.1:c.514-12C>T | ENSP00000508452.1:n.514-12C>T | |
| ENST00000692716.1:c.514-12C>T | ENSP00000509545.1:n.514-12C>T | |
| ENST00000693022.1:c.514-12C>T | ENSP00000508914.1:n.514-12C>T | |
| ENST00000693201.1:c.*96-12C>T | ENSP00000510346.1:n.*96-12C>T | |
| ENST00000693212.1:c.514-12C>T | ENSP00000510716.1:n.514-12C>T | |
| ENST00000256190.13:c.514-12C>T MANE Select | ENSP00000256190.8:n.514-12C>T | |
| ENST00000675281.1:c.514-12C>T | ENSP00000502491.1:n.514-12C>T | |
| ENST00000676324.1:c.514-12C>T | ENSP00000502578.1:n.514-12C>T | |
| ENST00000676387.1:c.514-12C>T | ENSP00000502779.1:n.514-12C>T | |
| ENST00000256190.12:c.514-12C>T | ENSP00000256190.8:n.514-12C>T | |
| ENST00000527019.5:n.461-12C>T | ||
| ENST00000533661.1:n.382-12C>T | ||
| ENST00000533770.5:n.429-12C>T | ||
| ENST00000617179.4:c.373-12C>T | ENSP00000482806.1:n.373-12C>T | |
| NM_030962.3:c.514-12C>T , LRG_267t1:c.514-12C>T | NP_112224.1:n.514-12C>T | |
| XM_005253154.3:c.514-12C>T | XP_005253211.1:n.514-12C>T | |
| XM_005253155.3:c.514-12C>T | XP_005253212.1:n.514-12C>T | |
| XM_011520394.1:c.514-12C>T | XP_011518696.1:n.514-12C>T | |
| XM_011520395.1:c.514-12C>T | XP_011518697.1:n.514-12C>T | |
| XM_011520396.1:c.514-12C>T | XP_011518698.1:n.514-12C>T | |
| XM_005253154.5:c.514-12C>T | XP_005253211.1:n.514-12C>T | |
| XM_005253155.5:c.514-12C>T | XP_005253212.1:n.514-12C>T | |
| XM_011520394.3:c.514-12C>T | XP_011518696.1:n.514-12C>T | |
| XM_011520395.3:c.514-12C>T | XP_011518697.1:n.514-12C>T | |
| XM_011520396.3:c.514-12C>T | XP_011518698.1:n.514-12C>T | |
| XM_017018372.2:c.376-12C>T | XP_016873861.1:n.376-12C>T | |
| XM_017018373.2:c.376-12C>T | XP_016873862.1:n.376-12C>T | |
| XM_017018374.2:c.514-12C>T | XP_016873863.1:n.514-12C>T | |
| XM_017018375.2:c.514-12C>T | XP_016873864.1:n.514-12C>T | |
| XM_017018376.2:c.514-12C>T | XP_016873865.1:n.514-12C>T | |
| XM_017018377.2:c.514-12C>T | XP_016873866.1:n.514-12C>T | |
| XR_001747994.2:n.652-12C>T | ||
| NM_001386339.1:c.514-12C>T | NP_001373268.1:n.514-12C>T | |
| NM_001386342.1:c.514-12C>T | NP_001373271.1:n.514-12C>T | |
| NM_030962.4:c.514-12C>T MANE Select | NP_112224.1:n.514-12C>T |