Linked Data
ClinVar Variation Id:
299637
ClinVar RCV Id:
RCV000309680
dbSNP Id:
rs7073084
gnomAD v2:
10-26223147-A-G
gnomAD v3:
10-25934218-A-G
gnomAD v4:
10-25934218-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.25934218A>G , CM000672.2:g.25934218A>G | GRCh38 |
| NC_000010.10:g.26223147A>G , CM000672.1:g.26223147A>G | GRCh37 |
| NC_000010.9:g.26263153A>G | NCBI36 |
| NG_011635.1:g.5146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_017433.4:c.-215A>G | NP_059129.3:n.-215A>G | |
| XM_011519500.1:c.-272A>G | XP_011517802.1:n.-272A>G | |
| XM_011519501.1:c.-128A>G | XP_011517803.1:n.-128A>G |