Linked Data
ClinVar Variation Id:
1728888
ClinVar RCV Id:
RCV002323027
dbSNP Id:
rs774590729
ExAC:
5:131953806 A / G
gnomAD v2:
5-131953806-A-G
gnomAD v4:
5-132618114-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132618114A>G , CM000667.2:g.132618114A>G | GRCh38 |
| NC_000005.9:g.131953806A>G , CM000667.1:g.131953806A>G | GRCh37 |
| NC_000005.8:g.131981705A>G | NCBI36 |
| NG_021151.1:g.66191A>G | |
| NG_021151.2:g.66138A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3209A>G MANE Select | ENSP00000368100.4:p.Asn1070Ser | |
| ENST00000638452.2:c.2912A>G | ENSP00000492349.2:p.Asn971Ser | |
| ENST00000638504.1:n.2817A>G | ||
| ENST00000638568.2:c.2912A>G | ENSP00000491158.2:p.Asn971Ser | |
| ENST00000639899.1:n.3728A>G | ||
| ENST00000640655.2:c.2912A>G | ENSP00000491596.2:p.Asn971Ser | |
| ENST00000651249.1:c.45A>G | ||
| ENST00000378823.7:c.3209A>G | ENSP00000368100.4:p.Asn1070Ser | |
| ENST00000533482.5:c.*2835A>G | ENSP00000431225.1:n.*2835A>G | |
| NM_005732.3:c.3209A>G | NP_005723.2:p.Asn1070Ser | |
| NM_005732.4:c.3209A>G MANE Select | NP_005723.2:p.Asn1070Ser |