Linked Data
ClinVar Variation Id:
393009
ClinVar RCV Id:
RCV000428564
dbSNP Id:
rs373419435
gnomAD v2:
20-47587755-A-G
gnomAD v3:
20-48971218-A-G
gnomAD v4:
20-48971218-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48971218A>G , CM000682.2:g.48971218A>G | GRCh38 |
| NC_000020.10:g.47587755A>G , CM000682.1:g.47587755A>G | GRCh37 |
| NC_000020.9:g.47021162A>G | NCBI36 |
| NG_011490.1:g.54481A>G | |
| NG_011490.2:g.54481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.1289A>G MANE Select | ENSP00000360985.4:p.Asn430Ser | |
| ENST00000679436.1:c.1286A>G | ENSP00000504888.1:p.Asn429Ser | |
| ENST00000679542.1:n.846A>G | ||
| ENST00000680635.1:n.846A>G | ||
| ENST00000680871.1:c.1137A>G | ENSP00000505042.1:n.1137A>G | |
| ENST00000681021.1:c.1289A>G | ENSP00000505972.1:p.Asn430Ser | |
| ENST00000681399.1:c.*966A>G | ENSP00000506363.1:n.*966A>G | |
| ENST00000681656.1:c.1289A>G | ENSP00000505638.1:p.Asn430Ser | |
| ENST00000681885.1:c.1289A>G | ENSP00000505737.1:p.Asn430Ser | |
| ENST00000371917.4:c.1289A>G | ENSP00000360985.4:p.Asn430Ser | |
| NM_006420.2:c.1289A>G | NP_006411.2:p.Asn430Ser | |
| XM_005260252.2:c.1286A>G | XP_005260309.1:p.Asn429Ser | |
| XM_005260252.3:c.1286A>G | XP_005260309.1:p.Asn429Ser | |
| NM_006420.3:c.1289A>G MANE Select | NP_006411.2:p.Asn430Ser |