Linked Data
ClinVar Variation Id:
5766
ClinVar RCV Id:
RCV000006122
dbSNP Id:
rs121908497
gnomAD v2:
11-20652263-A-G
gnomAD v4:
11-20630717-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20630717A>G , CM000673.2:g.20630717A>G | GRCh38 |
| NC_000011.9:g.20652263A>G , CM000673.1:g.20652263A>G | GRCh37 |
| NC_000011.8:g.20608839A>G | NCBI36 |
| NG_013086.1:g.36318A>G | |
| NG_013086.2:g.36318A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525748.6:c.1526A>G MANE Select | ENSP00000434364.2:p.Asn509Ser | |
| ENST00000298923.11:c.*823A>G | ENSP00000298923.7:n.*823A>G | |
| ENST00000525748.5:c.1526A>G | ENSP00000434364.1:p.Asn509Ser | |
| ENST00000528440.1:n.57A>G | ||
| NM_004211.3:c.1526A>G | NP_004202.2:p.Asn509Ser | |
| XM_005253225.1:c.824A>G | XP_005253282.1:p.Asn275Ser | |
| XM_011520473.1:c.1526A>G | XP_011518775.1:p.Asn509Ser | |
| NM_001318369.1:c.824A>G | NP_001305298.1:p.Asn275Ser | |
| NM_004211.4:c.1526A>G | NP_004202.3:p.Asn509Ser | |
| XM_017018544.2:c.650A>G | XP_016874033.1:p.Asn217Ser | |
| XM_017018545.2:c.485A>G | XP_016874034.1:p.Asn162Ser | |
| NM_001318369.2:c.824A>G | NP_001305298.1:p.Asn275Ser | |
| NM_004211.5:c.1526A>G MANE Select | NP_004202.4:p.Asn509Ser |