Linked Data
ClinVar Variation Id:
380755
ClinVar RCV Id:
RCV000422191
dbSNP Id:
rs955882030
gnomAD v3:
18-31498230-G-A
gnomAD v4:
18-31498230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498230G>A , CM000680.2:g.31498230G>A | GRCh38 |
| NC_000018.9:g.29078193G>A , CM000680.1:g.29078193G>A | GRCh37 |
| NC_000018.8:g.27332191G>A | NCBI36 |
| NG_007072.3:g.4989G>A , LRG_397:g.4989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682241.2:c.-22G>A | ENSP00000507600.2:n.-22G>A | |
| ENST00000261590.13:c.-22G>A MANE Select | ENSP00000261590.8:n.-22G>A | |
| ENST00000261590.12:c.-22G>A | ENSP00000261590.8:n.-22G>A | |
| ENST00000585206.1:c.-22G>A | ENSP00000462503.1:n.-22G>A | |
| NM_001943.3:c.-22G>A , LRG_397t1:c.-22G>A | NP_001934.2:n.-22G>A | |
| NM_001943.4:c.-22G>A | NP_001934.2:n.-22G>A | |
| NM_001943.5:c.-22G>A MANE Select | NP_001934.2:n.-22G>A |