Linked Data
ClinVar Variation Id:
2525340
ClinVar RCV Id:
RCV003274896
dbSNP Id:
rs762999544
ExAC:
1:237016282 A / G
gnomAD v2:
1-237016282-A-G
gnomAD v3:
1-236852982-A-G
gnomAD v4:
1-236852982-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852982A>G , CM000663.2:g.236852982A>G | GRCh38 |
| NC_000001.10:g.237016282A>G , CM000663.1:g.237016282A>G | GRCh37 |
| NC_000001.9:g.235082905A>G | NCBI36 |
| NG_008959.1:g.62702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1847A>G MANE Select | ENSP00000355536.5:p.Asn616Ser | |
| ENST00000535889.6:c.1847A>G | ENSP00000441845.1:p.Asn616Ser | |
| ENST00000650888.1:c.*889A>G | ENSP00000498393.1:n.*889A>G | |
| ENST00000651455.1:c.*591A>G | ENSP00000498963.1:n.*591A>G | |
| ENST00000674797.2:c.1499A>G | ENSP00000502299.2:p.Asn500Ser | |
| ENST00000679569.1:n.2161A>G | ||
| ENST00000679842.1:c.1847A>G | ENSP00000506109.1:p.Asn616Ser | |
| ENST00000680454.1:n.2291A>G | ||
| ENST00000681102.1:c.1667A>G | ENSP00000505600.1:p.Asn556Ser | |
| ENST00000681177.1:c.1516-6851A>G | ENSP00000506327.1:n.1516-6851A>G | |
| ENST00000681937.1:n.2148-6851A>G | ||
| ENST00000366576.3:c.509A>G | ENSP00000355535.3:p.Asn170Ser | |
| ENST00000366577.9:c.1847A>G | ENSP00000355536.5:p.Asn616Ser | |
| ENST00000463959.1:n.1866A>G | ||
| ENST00000535889.5:c.1847A>G | ENSP00000441845.1:p.Asn616Ser | |
| NM_000254.2:c.1847A>G | NP_000245.2:p.Asn616Ser | |
| NM_001291939.1:c.1847A>G | NP_001278868.1:p.Asn616Ser | |
| NM_001291940.1:c.626A>G | NP_001278869.1:p.Asn209Ser | |
| XM_005273141.3:c.1844A>G | XP_005273198.1:p.Asn615Ser | |
| XM_006711769.2:c.1847A>G | XP_006711832.1:p.Asn616Ser | |
| XM_006711770.1:c.911A>G | XP_006711833.1:p.Asn304Ser | |
| XM_011544193.1:c.1847A>G | XP_011542495.1:p.Asn616Ser | |
| XM_011544194.1:c.2015A>G | XP_011542496.1:p.Asn672Ser | |
| XM_005273141.5:c.1844A>G | XP_005273198.1:p.Asn615Ser | |
| XM_006711770.3:c.911A>G | XP_006711833.1:p.Asn304Ser | |
| XM_011544194.3:c.2015A>G | XP_011542496.1:p.Asn672Ser | |
| XM_017001329.2:c.2015A>G | XP_016856818.1:p.Asn672Ser | |
| XM_017001330.2:c.2015A>G | XP_016856819.1:p.Asn672Ser | |
| NM_001291940.2:c.626A>G | NP_001278869.1:p.Asn209Ser | |
| NM_000254.3:c.1847A>G MANE Select | NP_000245.2:p.Asn616Ser |