Linked Data
ClinVar Variation Id:
389094
ClinVar RCV Id:
RCV000424668
dbSNP Id:
rs1057523327
gnomAD v4:
15-68229613-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68229613C>A , CM000677.2:g.68229613C>A | GRCh38 |
| NC_000015.9:g.68521951C>A , CM000677.1:g.68521951C>A | GRCh37 |
| NC_000015.8:g.66309005C>A | NCBI36 |
| NG_008764.2:g.32599G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.-29G>T MANE Select | ENSP00000249806.5:n.-29G>T | |
| ENST00000562767.2:c.-29G>T | ENSP00000456336.1:n.-29G>T | |
| ENST00000563917.2:n.41-15225G>T | ||
| ENST00000565471.6:c.-29G>T | ENSP00000457384.1:n.-29G>T | |
| ENST00000635747.1:c.173-10963G>T | ENSP00000490627.1:n.173-10963G>T | |
| ENST00000636020.1:n.104G>T | ||
| ENST00000636212.1:c.-29G>T | ENSP00000489851.1:n.-29G>T | |
| ENST00000636314.1:c.-29G>T | ENSP00000490295.1:n.-29G>T | |
| ENST00000636876.1:c.*104-10963G>T | ENSP00000489950.1:n.*104-10963G>T | |
| ENST00000637054.1:c.-29G>T | ENSP00000490807.1:n.-29G>T | |
| ENST00000637223.1:c.173-10963G>T | ENSP00000490010.1:n.173-10963G>T | |
| ENST00000637450.1:c.-29G>T | ENSP00000490204.1:n.-29G>T | |
| ENST00000637494.1:c.-29G>T | ENSP00000490057.1:n.-29G>T | |
| ENST00000637667.1:c.-29G>T | ENSP00000489843.1:n.-29G>T | |
| ENST00000637888.1:c.-29G>T | ENSP00000490546.1:n.-29G>T | |
| ENST00000638076.1:c.-29G>T | ENSP00000490373.1:n.-29G>T | |
| ENST00000638144.1:n.31-15225G>T | ||
| ENST00000249806.9:c.-29G>T | ENSP00000249806.5:n.-29G>T | |
| ENST00000538696.5:c.180-10963G>T | ENSP00000445770.1:n.180-10963G>T | |
| ENST00000562767.1:c.-29G>T | ENSP00000456336.1:n.-29G>T | |
| ENST00000564752.1:c.-29G>T | ENSP00000457822.1:n.-29G>T | |
| ENST00000564846.1:n.516-10963G>T | ||
| ENST00000565471.5:c.-29G>T | ENSP00000457384.1:n.-29G>T | |
| ENST00000566347.5:c.-29G>T | ENSP00000457783.1:n.-29G>T | |
| ENST00000567060.5:c.-29G>T | ENSP00000454818.1:n.-29G>T | |
| ENST00000569336.1:n.58G>T | ||
| NM_017882.2:c.-29G>T | NP_060352.1:n.-29G>T | |
| XR_931861.1:n.75G>T | ||
| NM_017882.3:c.-29G>T MANE Select | NP_060352.1:n.-29G>T |