Linked Data
ClinVar Variation Id:
509275
dbSNP Id:
rs752918296
ExAC:
15:76523751 G / A
gnomAD v2:
15-76523751-G-A
gnomAD v3:
15-76231410-G-A
gnomAD v4:
15-76231410-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76231410G>A , CM000677.2:g.76231410G>A | GRCh38 |
| NC_000015.9:g.76523751G>A , CM000677.1:g.76523751G>A | GRCh37 |
| NC_000015.8:g.74310806G>A | NCBI36 |
| NG_007077.2:g.85060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.*9-12C>T | ENSP00000452777.2:n.*9-12C>T | |
| ENST00000560044.6:c.*812-12C>T | ENSP00000452942.1:n.*812-12C>T | |
| ENST00000560595.6:c.1036-12C>T | ENSP00000453345.2:n.1036-12C>T | |
| ENST00000565910.6:c.817-12C>T | ENSP00000458001.2:n.817-12C>T | |
| ENST00000685118.1:c.*812-12C>T | ENSP00000509473.1:n.*812-12C>T | |
| ENST00000685548.1:c.817-12C>T | ENSP00000510343.1:n.817-12C>T | |
| ENST00000685863.1:c.601-12C>T | ENSP00000509361.1:n.601-12C>T | |
| ENST00000687293.1:c.892-12C>T | ENSP00000509928.1:n.892-12C>T | |
| ENST00000687975.1:c.*693-12C>T | ENSP00000508690.1:n.*693-12C>T | |
| ENST00000688154.1:c.817-12C>T | ENSP00000510637.1:n.817-12C>T | |
| ENST00000688389.1:c.748-12C>T | ENSP00000510491.1:n.748-12C>T | |
| ENST00000688637.1:n.898-12C>T | ||
| ENST00000688908.1:c.652-12C>T | ENSP00000510242.1:n.652-12C>T | |
| ENST00000689730.1:c.799-12C>T | ENSP00000510006.1:n.799-12C>T | |
| ENST00000689739.1:n.829-12C>T | ||
| ENST00000690610.1:c.817-12C>T | ENSP00000510473.1:n.817-12C>T | |
| ENST00000691021.1:c.*812-12C>T | ENSP00000510805.1:n.*812-12C>T | |
| ENST00000691071.1:n.596-12C>T | ||
| ENST00000691695.1:c.*9-12C>T | ENSP00000509402.1:n.*9-12C>T | |
| ENST00000692691.1:c.940-12C>T | ENSP00000508808.1:n.940-12C>T | |
| ENST00000693064.1:c.*792-12C>T | ENSP00000510720.1:n.*792-12C>T | |
| ENST00000557943.6:c.817-12C>T MANE Select | ENSP00000452762.1:n.817-12C>T | |
| ENST00000267950.12:c.*540-12C>T | ENSP00000267950.8:n.*540-12C>T | |
| ENST00000433983.6:c.670-12C>T | ENSP00000399273.2:n.670-12C>T | |
| ENST00000557943.5:c.817-12C>T | ENSP00000452762.1:n.817-12C>T | |
| ENST00000559075.5:n.841-12C>T | ||
| ENST00000559602.5:c.505-12C>T | ENSP00000452659.1:n.505-12C>T | |
| ENST00000559973.5:c.527-12C>T | ||
| ENST00000560044.5:c.*812-12C>T | ENSP00000452942.1:n.*812-12C>T | |
| ENST00000560595.5:c.748-12C>T | ENSP00000453345.1:n.748-12C>T | |
| ENST00000560726.5:c.37-12C>T | ENSP00000453098.1:n.37-12C>T | |
| ENST00000560899.5:c.37-12C>T | ENSP00000453422.1:n.37-12C>T | |
| NM_000126.3:c.817-12C>T | NP_000117.1:n.817-12C>T | |
| NM_001127716.1:c.670-12C>T | NP_001121188.1:n.670-12C>T | |
| XR_931766.1:n.872-12C>T | ||
| XR_931766.3:n.898-12C>T | ||
| NM_000126.4:c.817-12C>T MANE Select | NP_000117.1:n.817-12C>T | |
| NM_001127716.2:c.670-12C>T | NP_001121188.1:n.670-12C>T |