Linked Data
ClinVar Variation Id:
513614
dbSNP Id:
rs377259058
ExAC:
15:76523669 A / G
gnomAD v2:
15-76523669-A-G
gnomAD v3:
15-76231328-A-G
gnomAD v4:
15-76231328-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76231328A>G , CM000677.2:g.76231328A>G | GRCh38 |
| NC_000015.9:g.76523669A>G , CM000677.1:g.76523669A>G | GRCh37 |
| NC_000015.8:g.74310724A>G | NCBI36 |
| NG_007077.2:g.85142T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.*74+5T>C | ENSP00000452777.2:n.*74+5T>C | |
| ENST00000560044.6:c.*877+5T>C | ENSP00000452942.1:n.*877+5T>C | |
| ENST00000560595.6:c.1101+5T>C | ENSP00000453345.2:n.1101+5T>C | |
| ENST00000565910.6:c.882+5T>C | ENSP00000458001.2:n.882+5T>C | |
| ENST00000685118.1:c.*877+5T>C | ENSP00000509473.1:n.*877+5T>C | |
| ENST00000685548.1:c.882+5T>C | ENSP00000510343.1:n.882+5T>C | |
| ENST00000685863.1:c.666+5T>C | ENSP00000509361.1:n.666+5T>C | |
| ENST00000687293.1:c.957+5T>C | ENSP00000509928.1:n.957+5T>C | |
| ENST00000687975.1:c.*758+5T>C | ENSP00000508690.1:n.*758+5T>C | |
| ENST00000688154.1:c.882+5T>C | ENSP00000510637.1:n.882+5T>C | |
| ENST00000688389.1:c.813+5T>C | ENSP00000510491.1:n.813+5T>C | |
| ENST00000688637.1:n.963+5T>C | ||
| ENST00000688908.1:c.717+5T>C | ENSP00000510242.1:n.717+5T>C | |
| ENST00000689730.1:c.864+5T>C | ENSP00000510006.1:n.864+5T>C | |
| ENST00000689739.1:n.899T>C | ||
| ENST00000690610.1:c.882+5T>C | ENSP00000510473.1:n.882+5T>C | |
| ENST00000691021.1:c.*877+5T>C | ENSP00000510805.1:n.*877+5T>C | |
| ENST00000691071.1:n.666T>C | ||
| ENST00000691695.1:c.*74+5T>C | ENSP00000509402.1:n.*74+5T>C | |
| ENST00000692691.1:c.1005+5T>C | ENSP00000508808.1:n.1005+5T>C | |
| ENST00000693064.1:c.*857+5T>C | ENSP00000510720.1:n.*857+5T>C | |
| ENST00000557943.6:c.882+5T>C MANE Select | ENSP00000452762.1:n.882+5T>C | |
| ENST00000267950.12:c.*605+5T>C | ENSP00000267950.8:n.*605+5T>C | |
| ENST00000433983.6:c.735+5T>C | ENSP00000399273.2:n.735+5T>C | |
| ENST00000557943.5:c.882+5T>C | ENSP00000452762.1:n.882+5T>C | |
| ENST00000559075.5:n.911T>C | ||
| ENST00000559602.5:c.570+5T>C | ENSP00000452659.1:n.570+5T>C | |
| ENST00000559973.5:c.592+5T>C | ||
| ENST00000560595.5:c.813+5T>C | ENSP00000453345.1:n.813+5T>C | |
| ENST00000560726.5:c.102+5T>C | ENSP00000453098.1:n.102+5T>C | |
| ENST00000560899.5:c.102+5T>C | ENSP00000453422.1:n.102+5T>C | |
| ENST00000565910.5:c.66+5T>C | ENSP00000458001.1:n.66+5T>C | |
| NM_000126.3:c.882+5T>C | NP_000117.1:n.882+5T>C | |
| NM_001127716.1:c.735+5T>C | NP_001121188.1:n.735+5T>C | |
| XR_931766.1:n.937+5T>C | ||
| XR_931766.3:n.963+5T>C | ||
| NM_000126.4:c.882+5T>C MANE Select | NP_000117.1:n.882+5T>C | |
| NM_001127716.2:c.735+5T>C | NP_001121188.1:n.735+5T>C |