Linked Data
ClinVar Variation Id:
3178
ClinVar RCV Id:
RCV000003328
dbSNP Id:
rs120074166
gnomAD v2:
15-43023473-T-C
gnomAD v3:
15-42731275-T-C
gnomAD v4:
15-42731275-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42731275T>C , CM000677.2:g.42731275T>C | GRCh38 |
| NC_000015.9:g.43023473T>C , CM000677.1:g.43023473T>C | GRCh37 |
| NC_000015.8:g.40810765T>C | NCBI36 |
| NG_012491.1:g.10945A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356231.4:c.1796A>G MANE Select | ENSP00000348564.3:p.Asn599Ser | |
| ENST00000643434.1:c.*974A>G | ENSP00000494699.1:n.*974A>G | |
| ENST00000356231.3:c.1796A>G | ENSP00000348564.3:p.Asn599Ser | |
| NM_138477.2:c.1796A>G | NP_612486.2:p.Asn599Ser | |
| XM_005254176.3:c.1799A>G | XP_005254233.1:p.Asn600Ser | |
| XM_011521270.1:c.1823A>G | XP_011519572.1:p.Asn608Ser | |
| XM_011521271.1:c.1820A>G | XP_011519573.1:p.Asn607Ser | |
| XM_011521272.1:c.1823A>G | XP_011519574.1:p.Asn608Ser | |
| XM_011521273.1:c.1823A>G | XP_011519575.1:p.Asn608Ser | |
| XM_011521274.1:c.788A>G | XP_011519576.1:p.Asn263Ser | |
| XM_011521275.1:c.1040A>G | XP_011519577.1:p.Asn347Ser | |
| XR_931757.1:n.1834A>G | ||
| NM_138477.4:c.1796A>G MANE Select | NP_612486.2:p.Asn599Ser | |
| XM_005254176.5:c.1799A>G | XP_005254233.1:p.Asn600Ser | |
| XM_011521270.2:c.1823A>G | XP_011519572.1:p.Asn608Ser | |
| XM_011521271.2:c.1820A>G | XP_011519573.1:p.Asn607Ser | |
| XM_011521274.2:c.788A>G | XP_011519576.1:p.Asn263Ser | |
| XR_001751104.1:n.1853A>G | ||
| XR_001751105.1:n.1853A>G | ||
| XR_931757.2:n.1854A>G |