Linked Data
ClinVar Variation Id:
4077
dbSNP Id:
rs104894483
ExAC:
15:68506711 C / A
gnomAD v2:
15-68506711-C-A
gnomAD v3:
15-68214373-C-A
gnomAD v4:
15-68214373-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68214373C>A , CM000677.2:g.68214373C>A | GRCh38 |
| NC_000015.9:g.68506711C>A , CM000677.1:g.68506711C>A | GRCh37 |
| NC_000015.8:g.66293765C>A | NCBI36 |
| NG_008764.2:g.47839G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.214G>T MANE Select | ENSP00000249806.5:p.Glu72Ter | |
| ENST00000562767.2:c.83+15129G>T | ENSP00000456336.1:n.83+15129G>T | |
| ENST00000563917.2:n.56G>T | ||
| ENST00000565471.6:c.84-4614G>T | ENSP00000457384.1:n.84-4614G>T | |
| ENST00000635747.1:c.*117G>T | ENSP00000490627.1:n.*117G>T | |
| ENST00000635754.1:n.1236G>T | ||
| ENST00000636020.1:n.346G>T | ||
| ENST00000636212.1:c.214G>T | ENSP00000489851.1:p.Glu72Ter | |
| ENST00000636314.1:c.99G>T | ENSP00000490295.1:p.Ser33= | |
| ENST00000637054.1:c.198+4163G>T | ENSP00000490807.1:n.198+4163G>T | |
| ENST00000637223.1:c.*117G>T | ENSP00000490010.1:n.*117G>T | |
| ENST00000637329.1:c.125G>T | ||
| ENST00000637450.1:c.99G>T | ENSP00000490204.1:p.Ser33= | |
| ENST00000637494.1:c.199-3055G>T | ENSP00000490057.1:n.199-3055G>T | |
| ENST00000637667.1:c.199-2510G>T | ENSP00000489843.1:n.199-2510G>T | |
| ENST00000637823.1:c.140G>T | ||
| ENST00000637888.1:c.198+4163G>T | ENSP00000490546.1:n.198+4163G>T | |
| ENST00000638076.1:c.214G>T | ENSP00000490373.1:p.Glu72Ter | |
| ENST00000638144.1:n.46G>T | ||
| ENST00000646164.1:c.38+4163G>T | ||
| ENST00000249806.9:c.214G>T | ENSP00000249806.5:p.Glu72Ter | |
| ENST00000538696.5:c.310G>T | ENSP00000445770.1:p.Glu104Ter | |
| ENST00000562767.1:c.83+15129G>T | ENSP00000456336.1:n.83+15129G>T | |
| ENST00000564752.1:c.214G>T | ENSP00000457822.1:p.Glu72Ter | |
| ENST00000564846.1:n.646G>T | ||
| ENST00000565471.5:c.84-4614G>T | ENSP00000457384.1:n.84-4614G>T | |
| ENST00000566347.5:c.214G>T | ENSP00000457783.1:p.Glu72Ter | |
| ENST00000567060.5:c.214G>T | ENSP00000454818.1:p.Glu72Ter | |
| NM_017882.2:c.214G>T | NP_060352.1:p.Glu72Ter | |
| XR_931861.1:n.317G>T | ||
| NM_017882.3:c.214G>T MANE Select | NP_060352.1:p.Glu72Ter |