Linked Data
ClinVar Variation Id:
1119072
ClinVar RCV Id:
RCV001448417
dbSNP Id:
rs764363598
ExAC:
15:68500762 G / A
gnomAD v2:
15-68500762-G-A
gnomAD v3:
15-68208424-G-A
gnomAD v4:
15-68208424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208424G>A , CM000677.2:g.68208424G>A | GRCh38 |
| NC_000015.9:g.68500762G>A , CM000677.1:g.68500762G>A | GRCh37 |
| NC_000015.8:g.66287816G>A | NCBI36 |
| NG_008764.2:g.53788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.666-14C>T MANE Select | ENSP00000249806.5:n.666-14C>T | |
| ENST00000562767.2:c.84-10796C>T | ENSP00000456336.1:n.84-10796C>T | |
| ENST00000563917.2:n.508-14C>T | ||
| ENST00000565471.6:c.207-14C>T | ENSP00000457384.1:n.207-14C>T | |
| ENST00000635747.1:c.*569-14C>T | ENSP00000490627.1:n.*569-14C>T | |
| ENST00000636212.1:c.*336-14C>T | ENSP00000489851.1:n.*336-14C>T | |
| ENST00000636674.1:n.1768-14C>T | ||
| ENST00000636964.1:n.2194-14C>T | ||
| ENST00000637054.1:c.198+10112C>T | ENSP00000490807.1:n.198+10112C>T | |
| ENST00000637329.1:c.635-14C>T | ||
| ENST00000637450.1:c.*320-14C>T | ENSP00000490204.1:n.*320-14C>T | |
| ENST00000637494.1:c.378-14C>T | ENSP00000490057.1:n.378-14C>T | |
| ENST00000637667.1:c.567-14C>T | ENSP00000489843.1:n.567-14C>T | |
| ENST00000637823.1:c.491-14C>T | ||
| ENST00000637888.1:c.198+10112C>T | ENSP00000490546.1:n.198+10112C>T | |
| ENST00000638076.1:c.*269-14C>T | ENSP00000490373.1:n.*269-14C>T | |
| ENST00000638144.1:n.309-14C>T | ||
| ENST00000646164.1:c.39-8743C>T | ||
| ENST00000249806.9:c.666-14C>T | ENSP00000249806.5:n.666-14C>T | |
| ENST00000538696.5:c.762-14C>T | ENSP00000445770.1:n.762-14C>T | |
| ENST00000562767.1:c.84-10796C>T | ENSP00000456336.1:n.84-10796C>T | |
| ENST00000564752.1:c.*50-14C>T | ENSP00000457822.1:n.*50-14C>T | |
| ENST00000565471.5:c.207-14C>T | ENSP00000457384.1:n.207-14C>T | |
| ENST00000566347.5:c.477-14C>T | ENSP00000457783.1:n.477-14C>T | |
| ENST00000567060.5:c.*64-14C>T | ENSP00000454818.1:n.*64-14C>T | |
| NM_017882.2:c.666-14C>T | NP_060352.1:n.666-14C>T | |
| XR_931861.1:n.888-14C>T | ||
| NM_017882.3:c.666-14C>T MANE Select | NP_060352.1:n.666-14C>T |