Linked Data
ClinVar Variation Id:
1508828
ClinVar RCV Id:
RCV002040523
dbSNP Id:
rs1166688024
gnomAD v2:
9-894109-A-G
gnomAD v3:
9-894109-A-G
gnomAD v4:
9-894109-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.894109A>G , CM000671.2:g.894109A>G | GRCh38 |
| NC_000009.11:g.894109A>G , CM000671.1:g.894109A>G | GRCh37 |
| NC_000009.10:g.884109A>G | NCBI36 |
| NG_009221.1:g.57420A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.736A>G MANE Select | ENSP00000371711.3:p.Asn246Asp | |
| ENST00000382276.7:c.736A>G | ENSP00000371711.3:p.Asn246Asp | |
| ENST00000564322.1:n.885A>G | ||
| ENST00000569227.1:c.262A>G | ENSP00000454701.1:p.Asn88Asp | |
| NM_021951.2:c.736A>G | NP_068770.2:p.Asn246Asp | |
| XM_006716732.1:c.736A>G | XP_006716795.1:p.Asn246Asp | |
| XM_011517770.1:c.784A>G | XP_011516072.1:p.Asn262Asp | |
| XM_011517771.1:c.784A>G | XP_011516073.1:p.Asn262Asp | |
| XM_011517772.1:c.784A>G | XP_011516074.1:p.Asn262Asp | |
| XM_011517773.1:c.262A>G | XP_011516075.1:p.Asn88Asp | |
| NM_001363767.1:c.262A>G | NP_001350696.1:p.Asn88Asp | |
| XM_011517773.3:c.262A>G | XP_011516075.1:p.Asn88Asp | |
| XM_017014374.1:c.587-22654A>G | XP_016869863.1:n.587-22654A>G | |
| XM_017014375.1:c.539-22654A>G | XP_016869864.1:n.539-22654A>G | |
| XM_024447434.1:c.190A>G | XP_024303202.1:p.Asn64Asp | |
| NM_021951.3:c.736A>G MANE Select | NP_068770.2:p.Asn246Asp |