Linked Data
ClinVar Variation Id:
2988257
ClinVar RCV Id:
RCV003844440
dbSNP Id:
rs367566182
gnomAD v2:
10-124268291-G-A
gnomAD v3:
10-122508775-G-A
gnomAD v4:
10-122508775-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508775G>A , CM000672.2:g.122508775G>A | GRCh38 |
| NC_000010.10:g.124268291G>A , CM000672.1:g.124268291G>A | GRCh37 |
| NC_000010.9:g.124258281G>A | NCBI36 |
| NG_011554.1:g.52251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1120+5G>A MANE Select | ENSP00000357980.3:n.1120+5G>A | |
| ENST00000648167.1:c.802+5G>A | ENSP00000498033.1:n.802+5G>A | |
| ENST00000368984.7:c.1120+5G>A | ENSP00000357980.3:n.1120+5G>A | |
| ENST00000420892.1:c.343+5G>A | ENSP00000412676.1:n.343+5G>A | |
| NM_002775.4:c.1120+5G>A | NP_002766.1:n.1120+5G>A | |
| NM_002775.5:c.1120+5G>A MANE Select | NP_002766.1:n.1120+5G>A |