Linked Data
ClinVar Variation Id:
2880162
ClinVar RCV Id:
RCV003611278
dbSNP Id:
rs190230933
gnomAD v3:
10-110590440-A-G
gnomAD v4:
10-110590440-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110590440A>G , CM000672.2:g.110590440A>G | GRCh38 |
| NC_000010.10:g.112350198A>G , CM000672.1:g.112350198A>G | GRCh37 |
| NC_000010.9:g.112340188A>G | NCBI36 |
| NG_012217.1:g.27750A>G , LRG_774:g.27750A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1438A>G | ||
| ENST00000684988.1:n.2183A>G | ||
| ENST00000687823.1:n.1452A>G | ||
| ENST00000689932.1:n.3601A>G | ||
| ENST00000691297.1:n.1671A>G | ||
| ENST00000691527.1:n.2341A>G | ||
| ENST00000692792.1:n.1657A>G | ||
| ENST00000361804.5:c.1538A>G MANE Select | ENSP00000354720.5:p.Asn513Ser | |
| ENST00000361804.4:c.1538A>G | ENSP00000354720.4:p.Asn513Ser | |
| NM_005445.3:c.1538A>G , LRG_774t1:c.1538A>G | NP_005436.1:p.Asn513Ser | |
| NM_005445.4:c.1538A>G MANE Select | NP_005436.1:p.Asn513Ser |