Linked Data
ClinVar Variation Id:
314780
dbSNP Id:
rs757636745
ExAC:
14:88883199 A / G
gnomAD v2:
14-88883199-A-G
gnomAD v3:
14-88416855-A-G
gnomAD v4:
14-88416855-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88416855A>G , CM000676.2:g.88416855A>G | GRCh38 |
| NC_000014.8:g.88883199A>G , CM000676.1:g.88883199A>G | GRCh37 |
| NC_000014.7:g.87952952A>G | NCBI36 |
| NG_021183.1:g.36212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.372+11A>G MANE Select | ENSP00000377176.4:n.372+11A>G | |
| ENST00000045347.11:c.372+11A>G | ENSP00000045347.7:n.372+11A>G | |
| ENST00000356583.9:c.276+11A>G | ENSP00000348991.5:n.276+11A>G | |
| ENST00000393545.8:c.372+11A>G | ENSP00000377176.4:n.372+11A>G | |
| ENST00000553626.5:n.500+11A>G | ||
| ENST00000553885.5:c.330+11A>G | ENSP00000450606.1:n.330+11A>G | |
| ENST00000553908.5:c.*247+11A>G | ENSP00000452546.1:n.*247+11A>G | |
| ENST00000555401.5:c.201+11A>G | ENSP00000452435.1:n.201+11A>G | |
| ENST00000555515.5:c.*247+11A>G | ENSP00000450882.1:n.*247+11A>G | |
| ENST00000555534.5:c.*176+11A>G | ENSP00000450515.1:n.*176+11A>G | |
| ENST00000556553.5:c.276+11A>G | ENSP00000451128.1:n.276+11A>G | |
| ENST00000556666.5:n.919+11A>G | ||
| ENST00000556870.5:c.*176+11A>G | ENSP00000452359.1:n.*176+11A>G | |
| ENST00000557248.5:c.*92+11A>G | ENSP00000451690.1:n.*92+11A>G | |
| NM_001040428.3:c.276+11A>G | NP_001035518.1:n.276+11A>G | |
| NM_018418.4:c.372+11A>G | NP_060888.2:n.372+11A>G | |
| XM_005267851.1:c.372+11A>G | XP_005267908.1:n.372+11A>G | |
| XM_005267852.1:c.276+11A>G | XP_005267909.1:n.276+11A>G | |
| XM_005267854.1:c.180+11A>G | XP_005267911.1:n.180+11A>G | |
| XM_005267855.1:c.180+11A>G | XP_005267912.1:n.180+11A>G | |
| XM_006720204.1:c.372+11A>G | XP_006720267.1:n.372+11A>G | |
| XM_006720205.1:c.372+11A>G | XP_006720268.1:n.372+11A>G | |
| XM_011536951.1:c.219+11A>G | XP_011535253.1:n.219+11A>G | |
| XM_011536952.1:c.201+11A>G | XP_011535254.1:n.201+11A>G | |
| XM_011536953.1:c.54+11A>G | XP_011535255.1:n.54+11A>G | |
| XM_005267852.2:c.276+11A>G | XP_005267909.1:n.276+11A>G | |
| XM_017021452.1:c.219+11A>G | XP_016876941.1:n.219+11A>G | |
| XM_017021453.1:c.180+11A>G | XP_016876942.1:n.180+11A>G | |
| XM_017021454.1:c.180+11A>G | XP_016876943.1:n.180+11A>G | |
| XM_017021455.1:c.180+11A>G | XP_016876944.1:n.180+11A>G | |
| XM_017021456.1:c.180+11A>G | XP_016876945.1:n.180+11A>G | |
| XM_017021457.1:c.54+11A>G | XP_016876946.1:n.54+11A>G | |
| XM_024449660.1:c.201+11A>G | XP_024305428.1:n.201+11A>G | |
| XR_002957563.1:n.443+11A>G | ||
| NM_018418.5:c.372+11A>G MANE Select | NP_060888.2:n.372+11A>G | |
| NM_001040428.4:c.276+11A>G | NP_001035518.1:n.276+11A>G |