Linked Data
ClinVar Variation Id:
340558
ClinVar RCV Id:
RCV000261630
dbSNP Id:
rs551693587
ExAC:
22:17565940 G / A
gnomAD v2:
22-17565940-G-A
gnomAD v3:
22-17085050-G-A
gnomAD v4:
22-17085050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085050G>A , CM000684.2:g.17085050G>A | GRCh38 |
| NC_000022.10:g.17565940G>A , CM000684.1:g.17565940G>A | GRCh37 |
| NC_000022.9:g.15945940G>A | NCBI36 |
| NG_028257.1:g.5090G>A , LRG_355:g.5090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000694948.1:n.57G>A | ||
| ENST00000694949.1:n.54G>A | ||
| ENST00000694950.1:c.39G>A | ||
| ENST00000319363.11:c.-42G>A MANE Select | ENSP00000320936.6:n.-42G>A | |
| ENST00000319363.10:c.-42G>A | ENSP00000320936.6:n.-42G>A | |
| ENST00000477874.1:n.97G>A | ||
| ENST00000612619.1:c.-42G>A | ENSP00000479970.1:n.-42G>A | |
| NM_001289905.1:c.-42G>A | NP_001276834.1:n.-42G>A | |
| NM_014339.6:c.-42G>A , LRG_355t1:c.-42G>A | NP_055154.3:n.-42G>A | |
| NM_014339.7:c.-42G>A MANE Select | NP_055154.3:n.-42G>A | |
| NM_001289905.2:c.-42G>A | NP_001276834.1:n.-42G>A |