Linked Data
ClinVar Variation Id:
316993
dbSNP Id:
rs571940397
ExAC:
15:68503668 A / T
gnomAD v2:
15-68503668-A-T
gnomAD v3:
15-68211330-A-T
gnomAD v4:
15-68211330-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211330A>T , CM000677.2:g.68211330A>T | GRCh38 |
| NC_000015.9:g.68503668A>T , CM000677.1:g.68503668A>T | GRCh37 |
| NC_000015.8:g.66290722A>T | NCBI36 |
| NG_008764.2:g.50882T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.487-12T>A MANE Select | ENSP00000249806.5:n.487-12T>A | |
| ENST00000562767.2:c.84-13702T>A | ENSP00000456336.1:n.84-13702T>A | |
| ENST00000563917.2:n.329-12T>A | ||
| ENST00000565471.6:c.84-1571T>A | ENSP00000457384.1:n.84-1571T>A | |
| ENST00000635747.1:c.*390-12T>A | ENSP00000490627.1:n.*390-12T>A | |
| ENST00000636212.1:c.*157-12T>A | ENSP00000489851.1:n.*157-12T>A | |
| ENST00000636314.1:c.183-12T>A | ENSP00000490295.1:n.183-12T>A | |
| ENST00000636674.1:n.1589-12T>A | ||
| ENST00000636964.1:n.2003T>A | ||
| ENST00000637054.1:c.198+7206T>A | ENSP00000490807.1:n.198+7206T>A | |
| ENST00000637223.1:c.*201-12T>A | ENSP00000490010.1:n.*201-12T>A | |
| ENST00000637329.1:c.456-12T>A | ||
| ENST00000637450.1:c.*141-12T>A | ENSP00000490204.1:n.*141-12T>A | |
| ENST00000637494.1:c.199-12T>A | ENSP00000490057.1:n.199-12T>A | |
| ENST00000637667.1:c.388-12T>A | ENSP00000489843.1:n.388-12T>A | |
| ENST00000637823.1:c.312-12T>A | ||
| ENST00000637888.1:c.198+7206T>A | ENSP00000490546.1:n.198+7206T>A | |
| ENST00000638076.1:c.*90-12T>A | ENSP00000490373.1:n.*90-12T>A | |
| ENST00000638144.1:n.130-12T>A | ||
| ENST00000646164.1:c.38+7206T>A | ||
| ENST00000249806.9:c.487-12T>A | ENSP00000249806.5:n.487-12T>A | |
| ENST00000538696.5:c.583-12T>A | ENSP00000445770.1:n.583-12T>A | |
| ENST00000562767.1:c.84-13702T>A | ENSP00000456336.1:n.84-13702T>A | |
| ENST00000563917.1:n.387-12T>A | ||
| ENST00000564752.1:c.513-12T>A | ENSP00000457822.1:n.513-12T>A | |
| ENST00000565471.5:c.84-1571T>A | ENSP00000457384.1:n.84-1571T>A | |
| ENST00000566347.5:c.298-12T>A | ENSP00000457783.1:n.298-12T>A | |
| ENST00000567060.5:c.298-1610T>A | ENSP00000454818.1:n.298-1610T>A | |
| NM_017882.2:c.487-12T>A | NP_060352.1:n.487-12T>A | |
| XR_931861.1:n.709-12T>A | ||
| NM_017882.3:c.487-12T>A MANE Select | NP_060352.1:n.487-12T>A |