Linked Data
ClinVar Variation Id:
203686
dbSNP Id:
rs184587113
ExAC:
15:76587925 T / C
gnomAD v2:
15-76587925-T-C
gnomAD v3:
15-76295584-T-C
gnomAD v4:
15-76295584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76295584T>C , CM000677.2:g.76295584T>C | GRCh38 |
| NC_000015.9:g.76587925T>C , CM000677.1:g.76587925T>C | GRCh37 |
| NC_000015.8:g.74374980T>C | NCBI36 |
| NG_007077.2:g.20886A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.186+7A>G | ENSP00000452777.2:n.186+7A>G | |
| ENST00000560044.6:c.*181+7A>G | ENSP00000452942.1:n.*181+7A>G | |
| ENST00000560595.6:c.186+7A>G | ENSP00000453345.2:n.186+7A>G | |
| ENST00000565910.6:c.186+7A>G | ENSP00000458001.2:n.186+7A>G | |
| ENST00000685118.1:c.*181+7A>G | ENSP00000509473.1:n.*181+7A>G | |
| ENST00000685548.1:c.186+7A>G | ENSP00000510343.1:n.186+7A>G | |
| ENST00000685863.1:c.40-2884A>G | ENSP00000509361.1:n.40-2884A>G | |
| ENST00000687293.1:c.186+7A>G | ENSP00000509928.1:n.186+7A>G | |
| ENST00000687975.1:c.186+7A>G | ENSP00000508690.1:n.186+7A>G | |
| ENST00000688154.1:c.186+7A>G | ENSP00000510637.1:n.186+7A>G | |
| ENST00000688389.1:c.186+7A>G | ENSP00000510491.1:n.186+7A>G | |
| ENST00000688637.1:n.267+7A>G | ||
| ENST00000688908.1:c.40-2884A>G | ENSP00000510242.1:n.40-2884A>G | |
| ENST00000689730.1:c.186+7A>G | ENSP00000510006.1:n.186+7A>G | |
| ENST00000689739.1:n.267+7A>G | ||
| ENST00000690610.1:c.186+7A>G | ENSP00000510473.1:n.186+7A>G | |
| ENST00000691021.1:c.*181+7A>G | ENSP00000510805.1:n.*181+7A>G | |
| ENST00000691071.1:n.47+7A>G | ||
| ENST00000691695.1:c.40-2884A>G | ENSP00000509402.1:n.40-2884A>G | |
| ENST00000692691.1:c.186+7A>G | ENSP00000508808.1:n.186+7A>G | |
| ENST00000693064.1:c.*161+7A>G | ENSP00000510720.1:n.*161+7A>G | |
| ENST00000557943.6:c.186+7A>G MANE Select | ENSP00000452762.1:n.186+7A>G | |
| ENST00000267950.12:c.186+7A>G | ENSP00000267950.8:n.186+7A>G | |
| ENST00000433983.6:c.40-2884A>G | ENSP00000399273.2:n.40-2884A>G | |
| ENST00000557943.5:c.186+7A>G | ENSP00000452762.1:n.186+7A>G | |
| ENST00000559075.5:n.210+7A>G | ||
| ENST00000559386.1:c.186+7A>G | ENSP00000452777.1:n.186+7A>G | |
| ENST00000559602.5:c.40-7639A>G | ENSP00000452659.1:n.40-7639A>G | |
| ENST00000560044.5:c.*181+7A>G | ENSP00000452942.1:n.*181+7A>G | |
| ENST00000560309.5:c.*181+7A>G | ENSP00000453753.1:n.*181+7A>G | |
| ENST00000560595.5:c.186+7A>G | ENSP00000453345.1:n.186+7A>G | |
| ENST00000560726.5:c.-512-3071A>G | ENSP00000453098.1:n.-512-3071A>G | |
| ENST00000560899.5:c.-512-3071A>G | ENSP00000453422.1:n.-512-3071A>G | |
| ENST00000561092.1:n.200+7A>G | ||
| NM_000126.3:c.186+7A>G | NP_000117.1:n.186+7A>G | |
| NM_001127716.1:c.40-2884A>G | NP_001121188.1:n.40-2884A>G | |
| XR_931766.1:n.241+7A>G | ||
| XR_931766.3:n.267+7A>G | ||
| NM_000126.4:c.186+7A>G MANE Select | NP_000117.1:n.186+7A>G | |
| NM_001127716.2:c.40-2884A>G | NP_001121188.1:n.40-2884A>G |