Linked Data
ClinVar Variation Id:
385062
dbSNP Id:
rs375742620
ExAC:
11:9834259 C / A
gnomAD v2:
11-9834259-C-A
gnomAD v3:
11-9812712-C-A
gnomAD v4:
11-9812712-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9812712C>A , CM000673.2:g.9812712C>A | GRCh38 |
| NC_000011.9:g.9834259C>A , CM000673.1:g.9834259C>A | GRCh37 |
| NC_000011.8:g.9790835C>A | NCBI36 |
| NG_008074.1:g.486496G>T , LRG_267:g.486496G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.463-4G>T | ||
| ENST00000530741.2:c.2542-4G>T | ENSP00000432643.2:n.2542-4G>T | |
| ENST00000532095.2:n.515-4G>T | ||
| ENST00000675281.2:c.4054-4G>T | ENSP00000502491.1:n.4054-4G>T | |
| ENST00000676324.2:c.*287-4G>T | ENSP00000502578.1:n.*287-4G>T | |
| ENST00000676387.2:c.4036-4G>T | ENSP00000502779.1:n.4036-4G>T | |
| ENST00000688344.1:c.3586-4G>T | ENSP00000509987.1:n.3586-4G>T | |
| ENST00000689128.1:c.4075-4G>T | ENSP00000509587.1:n.4075-4G>T | |
| ENST00000689258.1:c.3916-4G>T | ENSP00000510475.1:n.3916-4G>T | |
| ENST00000689342.1:c.186-4G>T | ||
| ENST00000689356.1:n.1150-4G>T | ||
| ENST00000689597.1:c.2683-4G>T | ENSP00000510781.1:n.2683-4G>T | |
| ENST00000689940.1:c.3973-4G>T | ENSP00000508452.1:n.3973-4G>T | |
| ENST00000690944.1:c.186-4G>T | ||
| ENST00000691616.1:n.463-4G>T | ||
| ENST00000692716.1:c.3850-4G>T | ENSP00000509545.1:n.3850-4G>T | |
| ENST00000693541.1:n.898-4G>T | ||
| ENST00000256190.13:c.3979-4G>T MANE Select | ENSP00000256190.8:n.3979-4G>T | |
| ENST00000675281.1:c.4054-4G>T | ENSP00000502491.1:n.4054-4G>T | |
| ENST00000676324.1:c.*287-4G>T | ENSP00000502578.1:n.*287-4G>T | |
| ENST00000676387.1:c.4036-4G>T | ENSP00000502779.1:n.4036-4G>T | |
| ENST00000256190.12:c.3979-4G>T | ENSP00000256190.8:n.3979-4G>T | |
| ENST00000524961.5:n.463-4G>T | ||
| ENST00000528478.1:n.43G>T | ||
| ENST00000530741.1:c.726-4G>T | ||
| ENST00000533584.1:n.499-4G>T | ||
| ENST00000617179.4:c.3838-4G>T | ENSP00000482806.1:n.3838-4G>T | |
| NM_030962.3:c.3979-4G>T , LRG_267t1:c.3979-4G>T | NP_112224.1:n.3979-4G>T | |
| XM_005253154.3:c.4075-4G>T | XP_005253211.1:n.4075-4G>T | |
| XM_005253155.3:c.3946-4G>T | XP_005253212.1:n.3946-4G>T | |
| XM_011520394.1:c.3961-4G>T | XP_011518696.1:n.3961-4G>T | |
| XM_005253154.5:c.4075-4G>T | XP_005253211.1:n.4075-4G>T | |
| XM_005253155.5:c.3946-4G>T | XP_005253212.1:n.3946-4G>T | |
| XM_011520394.3:c.3961-4G>T | XP_011518696.1:n.3961-4G>T | |
| XM_017018372.2:c.3937-4G>T | XP_016873861.1:n.3937-4G>T | |
| XM_017018373.2:c.3937-4G>T | XP_016873862.1:n.3937-4G>T | |
| XM_017018374.2:c.3850-4G>T | XP_016873863.1:n.3850-4G>T | |
| XM_017018375.2:c.3838-4G>T | XP_016873864.1:n.3838-4G>T | |
| XR_001747994.2:n.4213-4G>T | ||
| NM_001386339.1:c.4075-4G>T | NP_001373268.1:n.4075-4G>T | |
| NM_001386342.1:c.3850-4G>T | NP_001373271.1:n.3850-4G>T | |
| NM_030962.4:c.3979-4G>T MANE Select | NP_112224.1:n.3979-4G>T |