Linked Data
ClinVar Variation Id:
532660
ClinVar RCV Id:
RCV000639520
dbSNP Id:
rs748885850
ExAC:
21:36164574 T / C
gnomAD v2:
21-36164574-T-C
gnomAD v4:
21-34792277-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792277T>C , CM000683.2:g.34792277T>C | GRCh38 |
| NC_000021.8:g.36164574T>C , CM000683.1:g.36164574T>C | GRCh37 |
| NC_000021.7:g.35086444T>C | NCBI36 |
| NG_011402.2:g.1197435A>G , LRG_482:g.1197435A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1301A>G MANE Select | ENSP00000501943.1:p.Asn434Ser | |
| ENST00000300305.7:c.1301A>G | ENSP00000300305.3:p.Asn434Ser | |
| ENST00000344691.8:c.1220A>G | ENSP00000340690.4:p.Asn407Ser | |
| ENST00000399240.5:c.1028A>G | ENSP00000382184.1:p.Asn343Ser | |
| ENST00000437180.5:c.1301A>G | ENSP00000409227.1:p.Asn434Ser | |
| ENST00000482318.5:c.*891A>G | ENSP00000477067.1:n.*891A>G | |
| NM_001001890.2:c.1220A>G | NP_001001890.1:p.Asn407Ser | |
| NM_001754.4:c.1301A>G , LRG_482t1:c.1301A>G | NP_001745.2:p.Asn434Ser | |
| XM_005261068.3:c.1265A>G | XP_005261125.1:p.Asn422Ser | |
| XM_005261069.3:c.1109A>G | XP_005261126.1:p.Asn370Ser | |
| XM_011529766.1:c.1301A>G | XP_011528068.1:p.Asn434Ser | |
| XM_011529767.1:c.1262A>G | XP_011528069.1:p.Asn421Ser | |
| XM_011529768.1:c.1070A>G | XP_011528070.1:p.Asn357Ser | |
| XM_005261069.4:c.1109A>G | XP_005261126.1:p.Asn370Ser | |
| XM_011529766.2:c.1301A>G | XP_011528068.1:p.Asn434Ser | |
| XM_011529767.2:c.1262A>G | XP_011528069.1:p.Asn421Ser | |
| XM_011529768.2:c.1070A>G | XP_011528070.1:p.Asn357Ser | |
| XM_017028487.1:c.1148A>G | XP_016883976.1:p.Asn383Ser | |
| NM_001001890.3:c.1220A>G | NP_001001890.1:p.Asn407Ser | |
| NM_001754.5:c.1301A>G MANE Select | NP_001745.2:p.Asn434Ser |