Linked Data
ClinVar Variation Id:
1072427
dbSNP Id:
rs760271120
ExAC:
15:68500646 G / C
gnomAD v2:
15-68500646-G-C
gnomAD v4:
15-68208308-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208308G>C , CM000677.2:g.68208308G>C | GRCh38 |
| NC_000015.9:g.68500646G>C , CM000677.1:g.68500646G>C | GRCh37 |
| NC_000015.8:g.66287700G>C | NCBI36 |
| NG_008764.2:g.53904C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.768C>G MANE Select | ENSP00000249806.5:p.Asp256Glu | |
| ENST00000562767.2:c.84-10680C>G | ENSP00000456336.1:n.84-10680C>G | |
| ENST00000565471.6:c.309C>G | ENSP00000457384.1:p.Asp103Glu | |
| ENST00000635747.1:c.*671C>G | ENSP00000490627.1:n.*671C>G | |
| ENST00000636212.1:c.*438C>G | ENSP00000489851.1:n.*438C>G | |
| ENST00000636674.1:n.1870C>G | ||
| ENST00000636964.1:n.2296C>G | ||
| ENST00000637054.1:c.198+10228C>G | ENSP00000490807.1:n.198+10228C>G | |
| ENST00000637329.1:c.737C>G | ||
| ENST00000637450.1:c.*422C>G | ENSP00000490204.1:n.*422C>G | |
| ENST00000637494.1:c.480C>G | ENSP00000490057.1:p.Asp160Glu | |
| ENST00000637667.1:c.669C>G | ENSP00000489843.1:p.Asp223Glu | |
| ENST00000637823.1:c.593C>G | ||
| ENST00000637888.1:c.198+10228C>G | ENSP00000490546.1:n.198+10228C>G | |
| ENST00000638076.1:c.*371C>G | ENSP00000490373.1:n.*371C>G | |
| ENST00000638144.1:n.411C>G | ||
| ENST00000646164.1:c.39-8627C>G | ||
| ENST00000249806.9:c.768C>G | ENSP00000249806.5:p.Asp256Glu | |
| ENST00000538696.5:c.864C>G | ENSP00000445770.1:p.Asp288Glu | |
| ENST00000562767.1:c.84-10680C>G | ENSP00000456336.1:n.84-10680C>G | |
| ENST00000565471.5:c.309C>G | ENSP00000457384.1:p.Asp103Glu | |
| ENST00000566347.5:c.579C>G | ENSP00000457783.1:p.Asp193Glu | |
| ENST00000567060.5:c.*166C>G | ENSP00000454818.1:n.*166C>G | |
| NM_017882.2:c.768C>G | NP_060352.1:p.Asp256Glu | |
| NM_017882.3:c.768C>G MANE Select | NP_060352.1:p.Asp256Glu |