Linked Data
ClinVar Variation Id:
2140705
ClinVar RCV Id:
RCV003073762
dbSNP Id:
rs533937837
ExAC:
19:33954921 T / C
gnomAD v2:
19-33954921-T-C
gnomAD v3:
19-33464015-T-C
gnomAD v4:
19-33464015-T-C
COSMIC:
COSM5972860
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33464015T>C , CM000681.2:g.33464015T>C | GRCh38 |
| NC_000019.9:g.33954921T>C , CM000681.1:g.33954921T>C | GRCh37 |
| NC_000019.8:g.38646761T>C | NCBI36 |
| NG_013358.1:g.62879A>G | |
| NG_013358.2:g.62879A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588328.7:c.596A>G | ENSP00000468516.4:p.Asn199Ser | |
| ENST00000651646.2:c.596A>G | ENSP00000498950.2:p.Asn199Ser | |
| ENST00000651901.2:c.596A>G | ENSP00000498922.2:p.Asn199Ser | |
| ENST00000698359.1:c.551A>G | ENSP00000513682.1:p.Asn184Ser | |
| ENST00000698360.1:c.596A>G | ENSP00000513683.1:p.Asn199Ser | |
| ENST00000698361.1:c.596A>G | ENSP00000513684.1:p.Asn199Ser | |
| ENST00000698362.1:c.596A>G | ENSP00000513685.1:p.Asn199Ser | |
| ENST00000698363.1:n.659A>G | ||
| ENST00000698364.1:n.659A>G | ||
| ENST00000698365.1:n.659A>G | ||
| ENST00000698426.1:c.275A>G | ENSP00000513713.1:p.Asn92Ser | |
| ENST00000698427.1:c.638A>G | ENSP00000513714.1:p.Asn213Ser | |
| ENST00000698428.1:c.275A>G | ENSP00000513715.1:p.Asn92Ser | |
| ENST00000698430.1:c.846A>G | ||
| ENST00000698431.1:c.333A>G | ENSP00000513717.1:n.333A>G | |
| ENST00000698432.1:c.405A>G | ||
| ENST00000698435.1:c.284A>G | ENSP00000513719.1:p.Asn95Ser | |
| ENST00000698436.1:c.*208A>G | ENSP00000513720.1:n.*208A>G | |
| ENST00000698437.1:n.579A>G | ||
| ENST00000698438.1:n.578A>G | ||
| ENST00000698439.1:c.453A>G | ENSP00000513721.1:n.453A>G | |
| ENST00000244137.12:c.596A>G MANE Select | ENSP00000244137.5:p.Asn199Ser | |
| ENST00000588328.6:c.585A>G | ||
| ENST00000590731.6:n.271A>G | ||
| ENST00000651646.1:c.594A>G | ||
| ENST00000651901.1:c.592A>G | ||
| ENST00000244137.11:c.596A>G | ENSP00000244137.5:p.Asn199Ser | |
| ENST00000397032.8:c.548+14031A>G | ENSP00000380226.3:n.548+14031A>G | |
| ENST00000436370.7:c.404A>G | ENSP00000391890.2:p.Asn135Ser | |
| ENST00000588328.5:c.87A>G | ||
| ENST00000588719.5:n.231A>G | ||
| ENST00000590408.1:c.314A>G | ||
| ENST00000590731.5:n.271A>G | ||
| ENST00000590755.6:c.423A>G | ENSP00000476667.1:n.423A>G | |
| ENST00000593163.5:n.761A>G | ||
| ENST00000609145.5:c.29A>G | ENSP00000476514.1:p.Asn10Ser | |
| NM_000285.3:c.596A>G | NP_000276.2:p.Asn199Ser | |
| NM_001166056.1:c.548+14031A>G | NP_001159528.1:n.548+14031A>G | |
| NM_001166057.1:c.404A>G | NP_001159529.1:p.Asn135Ser | |
| NM_000285.4:c.596A>G MANE Select | NP_000276.2:p.Asn199Ser | |
| NM_001166056.2:c.548+14031A>G | NP_001159528.1:n.548+14031A>G | |
| NM_001166057.2:c.404A>G | NP_001159529.1:p.Asn135Ser |