Linked Data
ClinVar Variation Id:
128786
dbSNP Id:
rs149692285
ExAC:
15:68504005 G / A
gnomAD v2:
15-68504005-G-A
gnomAD v3:
15-68211667-G-A
gnomAD v4:
15-68211667-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211667G>A , CM000677.2:g.68211667G>A | GRCh38 |
| NC_000015.9:g.68504005G>A , CM000677.1:g.68504005G>A | GRCh37 |
| NC_000015.8:g.66291059G>A | NCBI36 |
| NG_008764.2:g.50545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.486+8C>T MANE Select | ENSP00000249806.5:n.486+8C>T | |
| ENST00000562767.2:c.84-14039C>T | ENSP00000456336.1:n.84-14039C>T | |
| ENST00000563917.2:n.328+8C>T | ||
| ENST00000565471.6:c.84-1908C>T | ENSP00000457384.1:n.84-1908C>T | |
| ENST00000635747.1:c.*389+8C>T | ENSP00000490627.1:n.*389+8C>T | |
| ENST00000636212.1:c.*45C>T | ENSP00000489851.1:n.*45C>T | |
| ENST00000636314.1:c.183-349C>T | ENSP00000490295.1:n.183-349C>T | |
| ENST00000636674.1:n.1477C>T | ||
| ENST00000636964.1:n.1666C>T | ||
| ENST00000637054.1:c.198+6869C>T | ENSP00000490807.1:n.198+6869C>T | |
| ENST00000637223.1:c.*201-349C>T | ENSP00000490010.1:n.*201-349C>T | |
| ENST00000637329.1:c.455+8C>T | ||
| ENST00000637450.1:c.*140+8C>T | ENSP00000490204.1:n.*140+8C>T | |
| ENST00000637494.1:c.199-349C>T | ENSP00000490057.1:n.199-349C>T | |
| ENST00000637667.1:c.387+8C>T | ENSP00000489843.1:n.387+8C>T | |
| ENST00000637823.1:c.224-24C>T | ||
| ENST00000637888.1:c.198+6869C>T | ENSP00000490546.1:n.198+6869C>T | |
| ENST00000638076.1:c.494C>T | ENSP00000490373.1:p.Pro165Leu | |
| ENST00000638144.1:n.130-349C>T | ||
| ENST00000646164.1:c.38+6869C>T | ||
| ENST00000249806.9:c.486+8C>T | ENSP00000249806.5:n.486+8C>T | |
| ENST00000538696.5:c.582+8C>T | ENSP00000445770.1:n.582+8C>T | |
| ENST00000562767.1:c.84-14039C>T | ENSP00000456336.1:n.84-14039C>T | |
| ENST00000563917.1:n.275C>T | ||
| ENST00000564752.1:c.494C>T | ENSP00000457822.1:p.Pro165Leu | |
| ENST00000565471.5:c.84-1908C>T | ENSP00000457384.1:n.84-1908C>T | |
| ENST00000566347.5:c.298-349C>T | ENSP00000457783.1:n.298-349C>T | |
| ENST00000567060.5:c.298-1947C>T | ENSP00000454818.1:n.298-1947C>T | |
| NM_017882.2:c.486+8C>T | NP_060352.1:n.486+8C>T | |
| XR_931861.1:n.597C>T | ||
| NM_017882.3:c.486+8C>T MANE Select | NP_060352.1:n.486+8C>T |