Linked Data
ClinVar Variation Id:
232569
ClinVar RCV Id:
RCV000216511
dbSNP Id:
rs748086984
ExAC:
5:131893147 T / A
gnomAD v2:
5-131893147-T-A
gnomAD v3:
5-132557455-T-A
gnomAD v4:
5-132557455-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132557455T>A , CM000667.2:g.132557455T>A | GRCh38 |
| NC_000005.9:g.131893147T>A , CM000667.1:g.131893147T>A | GRCh37 |
| NC_000005.8:g.131921046T>A | NCBI36 |
| NG_021151.1:g.5532T>A | |
| NG_021151.2:g.5479T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.129+2T>A MANE Select | ENSP00000368100.4:n.129+2T>A | |
| ENST00000638452.2:c.-168-1829T>A | ENSP00000492349.2:n.-168-1829T>A | |
| ENST00000638504.1:n.207-1829T>A | ||
| ENST00000638568.2:c.-169+982T>A | ENSP00000491158.2:n.-169+982T>A | |
| ENST00000639899.1:n.290-1829T>A | ||
| ENST00000640655.2:c.-168-1829T>A | ENSP00000491596.2:n.-168-1829T>A | |
| ENST00000651160.1:c.129+2T>A | ENSP00000498829.1:n.129+2T>A | |
| ENST00000651541.1:c.-169+446T>A | ENSP00000498795.1:n.-169+446T>A | |
| ENST00000651658.1:n.197+2T>A | ||
| ENST00000651723.1:c.131T>A | ENSP00000498237.1:p.Val44Glu | |
| ENST00000652016.1:c.129+2T>A | ENSP00000498267.1:n.129+2T>A | |
| ENST00000652485.1:c.129+2T>A | ENSP00000498973.1:n.129+2T>A | |
| ENST00000378823.7:c.129+2T>A | ENSP00000368100.4:n.129+2T>A | |
| ENST00000416135.5:c.-169+982T>A | ENSP00000389515.1:n.-169+982T>A | |
| ENST00000423956.5:c.129+2T>A | ENSP00000390971.1:n.129+2T>A | |
| ENST00000453394.5:c.129+2T>A | ENSP00000400049.1:n.129+2T>A | |
| ENST00000533482.5:c.129+2T>A | ENSP00000431225.1:n.129+2T>A | |
| NM_005732.3:c.129+2T>A | NP_005723.2:n.129+2T>A | |
| NM_005732.4:c.129+2T>A MANE Select | NP_005723.2:n.129+2T>A |