Linked Data
ClinVar Variation Id:
2640827
ClinVar RCV Id:
RCV003422874
dbSNP Id:
rs1490996610
gnomAD v2:
10-112349673-C-G
gnomAD v4:
10-110589915-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589915C>G , CM000672.2:g.110589915C>G | GRCh38 |
| NC_000010.10:g.112349673C>G , CM000672.1:g.112349673C>G | GRCh37 |
| NC_000010.9:g.112339663C>G | NCBI36 |
| NG_012217.1:g.27225C>G , LRG_774:g.27225C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1333C>G | ||
| ENST00000684988.1:n.2078C>G | ||
| ENST00000687823.1:n.1347C>G | ||
| ENST00000689932.1:n.3496C>G | ||
| ENST00000691297.1:n.1566C>G | ||
| ENST00000691527.1:n.2236C>G | ||
| ENST00000692792.1:n.1552C>G | ||
| ENST00000361804.5:c.1433C>G MANE Select | ENSP00000354720.5:p.Ala478Gly | |
| ENST00000361804.4:c.1433C>G | ENSP00000354720.4:p.Ala478Gly | |
| NM_005445.3:c.1433C>G , LRG_774t1:c.1433C>G | NP_005436.1:p.Ala478Gly | |
| NM_005445.4:c.1433C>G MANE Select | NP_005436.1:p.Ala478Gly |