Linked Data
ClinVar Variation Id:
347896
dbSNP Id:
rs772784324
ExAC:
4:15569416 A / G
gnomAD v2:
4-15569416-A-G
gnomAD v3:
4-15567793-A-G
gnomAD v4:
4-15567793-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15567793A>G , CM000666.2:g.15567793A>G | GRCh38 |
| NC_000004.11:g.15569416A>G , CM000666.1:g.15569416A>G | GRCh37 |
| NC_000004.10:g.15178514A>G | NCBI36 |
| NG_013035.1:g.102928A>G , LRG_697:g.102928A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.3413+7A>G | ENSP00000374303.8:n.3413+7A>G | |
| ENST00000424120.6:c.3398+7A>G MANE Select | ENSP00000403465.1:n.3398+7A>G | |
| ENST00000503292.6:c.3398+7A>G | ENSP00000421809.1:n.3398+7A>G | |
| ENST00000506643.5:c.3251+7A>G | ENSP00000422931.2:n.3251+7A>G | |
| ENST00000634028.2:c.3251+7A>G | ENSP00000488669.2:n.3251+7A>G | |
| ENST00000650860.2:c.*404+7A>G | ENSP00000498775.1:n.*404+7A>G | |
| ENST00000674945.1:c.3251+7A>G | ENSP00000502333.1:n.3251+7A>G | |
| ENST00000675619.1:n.4209+7A>G | ||
| ENST00000675768.1:n.618+7A>G | ||
| ENST00000676337.1:c.*404+7A>G | ENSP00000501728.1:n.*404+7A>G | |
| ENST00000680586.1:n.4057+7A>G | ||
| ENST00000389652.9:c.2875+7A>G | ||
| ENST00000424120.5:c.3398+7A>G | ENSP00000403465.1:n.3398+7A>G | |
| ENST00000503292.5:c.3398+7A>G | ENSP00000421809.1:n.3398+7A>G | |
| ENST00000506643.4:c.1726+7A>G | ||
| ENST00000634028.1:c.3381+7A>G | ENSP00000488669.1:n.3381+7A>G | |
| NM_001080522.2:c.3398+7A>G , LRG_697t1:c.3398+7A>G | NP_001073991.2:n.3398+7A>G | |
| XM_005248177.1:c.3398+7A>G | XP_005248234.1:n.3398+7A>G | |
| XM_011513869.1:c.3398+7A>G | XP_011512171.1:n.3398+7A>G | |
| XM_011513870.1:c.3398+7A>G | XP_011512172.1:n.3398+7A>G | |
| XM_011513871.1:c.3251+7A>G | XP_011512173.1:n.3251+7A>G | |
| XM_017008482.1:c.3251+7A>G | XP_016863971.1:n.3251+7A>G | |
| XR_001741296.1:n.3643+7A>G | ||
| NM_001378615.1:c.3398+7A>G MANE Select | NP_001365544.1:n.3398+7A>G | |
| NM_001378617.1:c.3251+7A>G | NP_001365546.1:n.3251+7A>G |