Linked Data
ClinVar Variation Id:
243009
dbSNP Id:
rs140506267
ExAC:
9:894044 A / G
gnomAD v2:
9-894044-A-G
gnomAD v3:
9-894044-A-G
gnomAD v4:
9-894044-A-G
PubMed:
PMID:24934491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.894044A>G , CM000671.2:g.894044A>G | GRCh38 |
| NC_000009.11:g.894044A>G , CM000671.1:g.894044A>G | GRCh37 |
| NC_000009.10:g.884044A>G | NCBI36 |
| NG_009221.1:g.57355A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382276.8:c.671A>G MANE Select | ENSP00000371711.3:p.Asn224Ser | |
| ENST00000382276.7:c.671A>G | ENSP00000371711.3:p.Asn224Ser | |
| ENST00000564322.1:n.820A>G | ||
| ENST00000569227.1:c.197A>G | ENSP00000454701.1:p.Asn66Ser | |
| NM_021951.2:c.671A>G | NP_068770.2:p.Asn224Ser | |
| XM_006716732.1:c.671A>G | XP_006716795.1:p.Asn224Ser | |
| XM_011517770.1:c.719A>G | XP_011516072.1:p.Asn240Ser | |
| XM_011517771.1:c.719A>G | XP_011516073.1:p.Asn240Ser | |
| XM_011517772.1:c.719A>G | XP_011516074.1:p.Asn240Ser | |
| XM_011517773.1:c.197A>G | XP_011516075.1:p.Asn66Ser | |
| NM_001363767.1:c.197A>G | NP_001350696.1:p.Asn66Ser | |
| XM_011517773.3:c.197A>G | XP_011516075.1:p.Asn66Ser | |
| XM_017014374.1:c.587-22719A>G | XP_016869863.1:n.587-22719A>G | |
| XM_017014375.1:c.539-22719A>G | XP_016869864.1:n.539-22719A>G | |
| XM_024447434.1:c.125A>G | XP_024303202.1:p.Asn42Ser | |
| NM_021951.3:c.671A>G MANE Select | NP_068770.2:p.Asn224Ser |