Linked Data
ClinVar Variation Id:
14983
ClinVar RCV Id:
RCV001814961
dbSNP Id:
rs63750654
gnomAD v3:
11-5254956-A-G
gnomAD v4:
11-5254956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254956A>G , CM000673.2:g.5254956A>G | GRCh38 |
| NC_000011.9:g.5276186A>G , CM000673.1:g.5276186A>G | GRCh37 |
| NC_000011.8:g.5232762A>G | NCBI36 |
| NG_000007.3:g.42660T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380252.6:c.-73-442T>C | ENSP00000369602.2:n.-73-442T>C | |
| ENST00000380259.7:c.1319T>C | ENSP00000369609.3:n.1319T>C | |
| ENST00000643199.1:n.1262T>C | ||
| ENST00000646569.1:n.489T>C | ||
| ENST00000380252.5:c.63-442T>C | ENSP00000369602.1:n.63-442T>C | |
| ENST00000380259.6:c.-228T>C | ENSP00000369609.2:n.-228T>C |