Linked Data
ClinVar Variation Id:
1745194
ClinVar RCV Id:
RCV002335870
dbSNP Id:
rs1797959934
gnomAD v4:
7-117479588-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479588A>G , CM000669.2:g.117479588A>G | GRCh38 |
| NC_000007.13:g.117119642A>G , CM000669.1:g.117119642A>G | GRCh37 |
| NC_000007.12:g.116906878A>G | NCBI36 |
| NG_016465.4:g.18805A>G , LRG_663:g.18805A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-297A>G | ENSP00000417012.1:n.-297A>G | |
| ENST00000673785.1:c.-406+13757A>G | ENSP00000501235.1:n.-406+13757A>G | |
| ENST00000446805.1:c.-297A>G | ENSP00000417012.1:n.-297A>G | |
| ENST00000546407.1:n.166+3780A>G | ||
| XM_011515751.1:c.143+243A>G | XP_011514053.1:n.143+243A>G | |
| XM_011515752.1:c.143+243A>G | XP_011514054.1:n.143+243A>G | |
| XM_011515753.1:c.-297A>G | XP_011514055.1:n.-297A>G | |
| XM_011515754.1:c.-625A>G | XP_011514056.1:n.-625A>G |