Linked Data
ClinVar Variation Id:
136796
dbSNP Id:
rs139261571
ExAC:
15:68506643 G / T
gnomAD v2:
15-68506643-G-T
gnomAD v3:
15-68214305-G-T
gnomAD v4:
15-68214305-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68214305G>T , CM000677.2:g.68214305G>T | GRCh38 |
| NC_000015.9:g.68506643G>T , CM000677.1:g.68506643G>T | GRCh37 |
| NC_000015.8:g.66293697G>T | NCBI36 |
| NG_008764.2:g.47907C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.282C>A MANE Select | ENSP00000249806.5:p.Pro94= | |
| ENST00000562767.2:c.83+15197C>A | ENSP00000456336.1:n.83+15197C>A | |
| ENST00000563917.2:n.124C>A | ||
| ENST00000565471.6:c.84-4546C>A | ENSP00000457384.1:n.84-4546C>A | |
| ENST00000635747.1:c.*185C>A | ENSP00000490627.1:n.*185C>A | |
| ENST00000635754.1:n.1304C>A | ||
| ENST00000636020.1:n.414C>A | ||
| ENST00000636212.1:c.282C>A | ENSP00000489851.1:p.Pro94= | |
| ENST00000636314.1:c.167C>A | ENSP00000490295.1:p.Pro56His | |
| ENST00000637054.1:c.198+4231C>A | ENSP00000490807.1:n.198+4231C>A | |
| ENST00000637223.1:c.*185C>A | ENSP00000490010.1:n.*185C>A | |
| ENST00000637329.1:c.193C>A | ||
| ENST00000637450.1:c.167C>A | ENSP00000490204.1:p.Pro56His | |
| ENST00000637494.1:c.199-2987C>A | ENSP00000490057.1:n.199-2987C>A | |
| ENST00000637667.1:c.199-2442C>A | ENSP00000489843.1:n.199-2442C>A | |
| ENST00000637823.1:c.208C>A | ||
| ENST00000637888.1:c.198+4231C>A | ENSP00000490546.1:n.198+4231C>A | |
| ENST00000638076.1:c.282C>A | ENSP00000490373.1:p.Pro94= | |
| ENST00000638144.1:n.114C>A | ||
| ENST00000646164.1:c.38+4231C>A | ||
| ENST00000249806.9:c.282C>A | ENSP00000249806.5:p.Pro94= | |
| ENST00000538696.5:c.378C>A | ENSP00000445770.1:p.Pro126= | |
| ENST00000562767.1:c.83+15197C>A | ENSP00000456336.1:n.83+15197C>A | |
| ENST00000563917.1:n.63C>A | ||
| ENST00000564752.1:c.282C>A | ENSP00000457822.1:p.Pro94= | |
| ENST00000564846.1:n.714C>A | ||
| ENST00000565471.5:c.84-4546C>A | ENSP00000457384.1:n.84-4546C>A | |
| ENST00000566347.5:c.282C>A | ENSP00000457783.1:p.Pro94= | |
| ENST00000567060.5:c.282C>A | ENSP00000454818.1:p.Pro94= | |
| NM_017882.2:c.282C>A | NP_060352.1:p.Pro94= | |
| XR_931861.1:n.385C>A | ||
| NM_017882.3:c.282C>A MANE Select | NP_060352.1:p.Pro94= |