Linked Data
ClinVar Variation Id:
1489213
ClinVar RCV Id:
RCV001980520
dbSNP Id:
rs755200248
ExAC:
1:185984525 A / G
gnomAD v2:
1-185984525-A-G
gnomAD v3:
1-186015393-A-G
gnomAD v4:
1-186015393-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186015393A>G , CM000663.2:g.186015393A>G | GRCh38 |
| NC_000001.10:g.185984525A>G , CM000663.1:g.185984525A>G | GRCh37 |
| NC_000001.9:g.184251148A>G | NCBI36 |
| NG_011841.1:g.285843A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.4865A>G MANE Select | ENSP00000271588.4:p.Asn1622Ser | |
| ENST00000271588.8:c.4865A>G | ENSP00000271588.4:p.Asn1622Ser | |
| NM_031935.2:c.4865A>G | NP_114141.2:p.Asn1622Ser | |
| XM_011510037.1:c.4865A>G | XP_011508339.1:p.Asn1622Ser | |
| XM_011510038.1:c.4865A>G | XP_011508340.1:p.Asn1622Ser | |
| XM_011510039.1:c.4865A>G | XP_011508341.1:p.Asn1622Ser | |
| XM_011510040.1:c.4865A>G | XP_011508342.1:p.Asn1622Ser | |
| XM_011510041.1:c.4865A>G | XP_011508343.1:p.Asn1622Ser | |
| XM_011510038.3:c.4865A>G | XP_011508340.1:p.Asn1622Ser | |
| XM_011510041.3:c.4865A>G | XP_011508343.1:p.Asn1622Ser | |
| XM_017002437.1:c.2888A>G | XP_016857926.1:p.Asn963Ser | |
| XM_024450118.1:c.4865A>G | XP_024305886.1:p.Asn1622Ser | |
| NM_031935.3:c.4865A>G MANE Select | NP_114141.2:p.Asn1622Ser |