Linked Data
ClinVar Variation Id:
2727566
ClinVar RCV Id:
RCV003584062
dbSNP Id:
rs777602108
gnomAD v4:
5-132589619-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589619A>G , CM000667.2:g.132589619A>G | GRCh38 |
| NC_000005.9:g.131925311A>G , CM000667.1:g.131925311A>G | GRCh37 |
| NC_000005.8:g.131953210A>G | NCBI36 |
| NG_021151.1:g.37696A>G | |
| NG_021151.2:g.37643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1246-12A>G MANE Select | ENSP00000368100.4:n.1246-12A>G | |
| ENST00000638452.2:c.949-12A>G | ENSP00000492349.2:n.949-12A>G | |
| ENST00000638504.1:n.932-12A>G | ||
| ENST00000638568.2:c.949-12A>G | ENSP00000491158.2:n.949-12A>G | |
| ENST00000639899.1:n.1765-12A>G | ||
| ENST00000640655.2:c.949-12A>G | ENSP00000491596.2:n.949-12A>G | |
| ENST00000651160.1:c.1246-12A>G | ENSP00000498829.1:n.1246-12A>G | |
| ENST00000651541.1:c.949-12A>G | ENSP00000498795.1:n.949-12A>G | |
| ENST00000651658.1:n.1673-12A>G | ||
| ENST00000651723.1:c.*1329-12A>G | ENSP00000498237.1:n.*1329-12A>G | |
| ENST00000652016.1:c.1246-12A>G | ENSP00000498267.1:n.1246-12A>G | |
| ENST00000652485.1:c.1246-12A>G | ENSP00000498973.1:n.1246-12A>G | |
| ENST00000378823.7:c.1246-12A>G | ENSP00000368100.4:n.1246-12A>G | |
| ENST00000423956.5:c.1246-12A>G | ENSP00000390971.1:n.1246-12A>G | |
| ENST00000453394.5:c.1246-12A>G | ENSP00000400049.1:n.1246-12A>G | |
| ENST00000533482.5:c.*872-12A>G | ENSP00000431225.1:n.*872-12A>G | |
| NM_005732.3:c.1246-12A>G | NP_005723.2:n.1246-12A>G | |
| NM_005732.4:c.1246-12A>G MANE Select | NP_005723.2:n.1246-12A>G |