Linked Data
ClinVar Variation Id:
344384
dbSNP Id:
rs374425727
ExAC:
3:189582212 G / A
gnomAD v2:
3-189582212-G-A
gnomAD v3:
3-189864423-G-A
gnomAD v4:
3-189864423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189864423G>A , CM000665.2:g.189864423G>A | GRCh38 |
| NC_000003.11:g.189582212G>A , CM000665.1:g.189582212G>A | GRCh37 |
| NC_000003.10:g.191064906G>A | NCBI36 |
| NG_007550.1:g.237997G>A | |
| NG_007550.2:g.237997G>A | |
| NG_007550.3:g.272678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.766+5G>A MANE Select | ENSP00000264731.3:n.766+5G>A | |
| ENST00000354600.10:c.484+5G>A MANE Plus Clinical | ENSP00000346614.5:n.484+5G>A | |
| ENST00000264731.7:c.766+5G>A | ENSP00000264731.3:n.766+5G>A | |
| ENST00000320472.9:c.766+5G>A | ENSP00000317510.5:n.766+5G>A | |
| ENST00000354600.9:c.484+5G>A | ENSP00000346614.5:n.484+5G>A | |
| ENST00000392460.7:c.766+5G>A | ENSP00000376253.3:n.766+5G>A | |
| ENST00000392461.7:c.484+5G>A | ENSP00000376254.3:n.484+5G>A | |
| ENST00000392463.6:c.484+5G>A | ENSP00000376256.2:n.484+5G>A | |
| ENST00000418709.6:c.766+5G>A | ENSP00000407144.2:n.766+5G>A | |
| ENST00000437221.5:c.484+5G>A | ENSP00000392488.1:n.484+5G>A | |
| ENST00000440651.6:c.766+5G>A | ENSP00000394337.2:n.766+5G>A | |
| ENST00000449992.5:c.229+5G>A | ENSP00000387839.1:n.229+5G>A | |
| ENST00000456148.1:c.484+5G>A | ENSP00000389485.1:n.484+5G>A | |
| ENST00000460036.1:n.590+5G>A | ||
| NM_001114978.1:c.766+5G>A | NP_001108450.1:n.766+5G>A | |
| NM_001114979.1:c.766+5G>A | NP_001108451.1:n.766+5G>A | |
| NM_001114980.1:c.484+5G>A | NP_001108452.1:n.484+5G>A | |
| NM_001114981.1:c.484+5G>A | NP_001108453.1:n.484+5G>A | |
| NM_001114982.1:c.484+5G>A | NP_001108454.1:n.484+5G>A | |
| NM_003722.4:c.766+5G>A | NP_003713.3:n.766+5G>A | |
| XM_005247843.2:c.766+5G>A | XP_005247900.1:n.766+5G>A | |
| XM_005247844.3:c.715+5G>A | XP_005247901.1:n.715+5G>A | |
| XM_005247846.2:c.766+5G>A | XP_005247903.1:n.766+5G>A | |
| XM_011513251.1:c.763+5G>A | XP_011511553.1:n.763+5G>A | |
| XM_011513252.1:c.760+5G>A | XP_011511554.1:n.760+5G>A | |
| XM_011513253.1:c.727+5G>A | XP_011511555.1:n.727+5G>A | |
| NM_001329144.1:c.766+5G>A | NP_001316073.1:n.766+5G>A | |
| NM_001329145.1:c.484+5G>A | NP_001316074.1:n.484+5G>A | |
| NM_001329146.1:c.229+5G>A | NP_001316075.1:n.229+5G>A | |
| NM_001329148.1:c.766+5G>A | NP_001316077.1:n.766+5G>A | |
| NM_001329149.1:c.484+5G>A | NP_001316078.1:n.484+5G>A | |
| NM_001329150.1:c.229+5G>A | NP_001316079.1:n.229+5G>A | |
| NM_001329964.1:c.760+5G>A | NP_001316893.1:n.760+5G>A | |
| NM_003722.5:c.766+5G>A MANE Select | NP_003713.3:n.766+5G>A | |
| NM_001114978.2:c.766+5G>A | NP_001108450.1:n.766+5G>A | |
| NM_001114979.2:c.766+5G>A | NP_001108451.1:n.766+5G>A | |
| NM_001114980.2:c.484+5G>A MANE Plus Clinical | NP_001108452.1:n.484+5G>A | |
| NM_001114981.2:c.484+5G>A | NP_001108453.1:n.484+5G>A | |
| NM_001114982.2:c.484+5G>A | NP_001108454.1:n.484+5G>A | |
| NM_001329144.2:c.766+5G>A | NP_001316073.1:n.766+5G>A | |
| NM_001329145.2:c.484+5G>A | NP_001316074.1:n.484+5G>A | |
| NM_001329146.2:c.229+5G>A | NP_001316075.1:n.229+5G>A | |
| NM_001329148.2:c.766+5G>A | NP_001316077.1:n.766+5G>A | |
| NM_001329149.2:c.484+5G>A | NP_001316078.1:n.484+5G>A | |
| NM_001329150.2:c.229+5G>A | NP_001316079.1:n.229+5G>A | |
| NM_001329964.2:c.760+5G>A | NP_001316893.1:n.760+5G>A |