Linked Data
ClinVar Variation Id:
1313755
dbSNP Id:
rs1195721615
gnomAD v3:
7-117478787-A-G
gnomAD v4:
7-117478787-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117478787A>G , CM000669.2:g.117478787A>G | GRCh38 |
| NC_000007.13:g.117118841A>G , CM000669.1:g.117118841A>G | GRCh37 |
| NC_000007.12:g.116906077A>G | NCBI36 |
| NG_016465.4:g.18004A>G , LRG_663:g.18004A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-526+365A>G | ENSP00000417012.1:n.-526+365A>G | |
| ENST00000673785.1:c.-406+12956A>G | ENSP00000501235.1:n.-406+12956A>G | |
| ENST00000546407.1:n.166+2979A>G | ||
| XM_011515751.1:c.41+365A>G | XP_011514053.1:n.41+365A>G | |
| XM_011515752.1:c.41+365A>G | XP_011514054.1:n.41+365A>G | |
| XM_011515754.1:c.-1310A>G | XP_011514056.1:n.-1310A>G |