Linked Data
ClinVar Variation Id:
1557626
ClinVar RCV Id:
RCV002190438
dbSNP Id:
rs770373832
ExAC:
5:131893158 T / C
gnomAD v2:
5-131893158-T-C
gnomAD v4:
5-132557466-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132557466T>C , CM000667.2:g.132557466T>C | GRCh38 |
| NC_000005.9:g.131893158T>C , CM000667.1:g.131893158T>C | GRCh37 |
| NC_000005.8:g.131921057T>C | NCBI36 |
| NG_021151.1:g.5543T>C | |
| NG_021151.2:g.5490T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.129+13T>C MANE Select | ENSP00000368100.4:n.129+13T>C | |
| ENST00000638452.2:c.-168-1818T>C | ENSP00000492349.2:n.-168-1818T>C | |
| ENST00000638504.1:n.207-1818T>C | ||
| ENST00000638568.2:c.-169+993T>C | ENSP00000491158.2:n.-169+993T>C | |
| ENST00000639899.1:n.290-1818T>C | ||
| ENST00000640655.2:c.-168-1818T>C | ENSP00000491596.2:n.-168-1818T>C | |
| ENST00000651160.1:c.129+13T>C | ENSP00000498829.1:n.129+13T>C | |
| ENST00000651541.1:c.-169+457T>C | ENSP00000498795.1:n.-169+457T>C | |
| ENST00000651658.1:n.197+13T>C | ||
| ENST00000651723.1:c.142T>C | ENSP00000498237.1:p.Ter48Gln | |
| ENST00000652016.1:c.129+13T>C | ENSP00000498267.1:n.129+13T>C | |
| ENST00000652485.1:c.129+13T>C | ENSP00000498973.1:n.129+13T>C | |
| ENST00000378823.7:c.129+13T>C | ENSP00000368100.4:n.129+13T>C | |
| ENST00000416135.5:c.-169+993T>C | ENSP00000389515.1:n.-169+993T>C | |
| ENST00000423956.5:c.129+13T>C | ENSP00000390971.1:n.129+13T>C | |
| ENST00000453394.5:c.129+13T>C | ENSP00000400049.1:n.129+13T>C | |
| ENST00000533482.5:c.129+13T>C | ENSP00000431225.1:n.129+13T>C | |
| NM_005732.3:c.129+13T>C | NP_005723.2:n.129+13T>C | |
| NM_005732.4:c.129+13T>C MANE Select | NP_005723.2:n.129+13T>C |