Linked Data
ClinVar Variation Id:
475597
dbSNP Id:
rs76273991
ExAC:
22:31337950 T / C
gnomAD v2:
22-31337950-T-C
gnomAD v3:
22-30941963-T-C
gnomAD v4:
22-30941963-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30941963T>C , CM000684.2:g.30941963T>C | GRCh38 |
| NC_000022.10:g.31337950T>C , CM000684.1:g.31337950T>C | GRCh37 |
| NC_000022.9:g.29667950T>C | NCBI36 |
| NG_046752.1:g.31535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.626A>G MANE Select | ENSP00000380763.2:p.Asn209Ser | |
| ENST00000675601.1:n.468A>G | ||
| ENST00000215862.8:c.440A>G | ENSP00000215862.4:p.Asn147Ser | |
| ENST00000397641.7:c.626A>G | ENSP00000380763.2:p.Asn209Ser | |
| ENST00000469915.1:n.180A>G | ||
| ENST00000476152.2:n.748A>G | ||
| NM_001303256.1:c.626A>G | NP_001290185.1:p.Asn209Ser | |
| NM_001303257.1:c.626A>G | NP_001290186.1:p.Asn209Ser | |
| NM_014941.2:c.440A>G | NP_055756.1:p.Asn147Ser | |
| XM_011530003.1:c.650A>G | XP_011528305.1:p.Asn217Ser | |
| XM_011530004.1:c.641A>G | XP_011528306.1:p.Asn214Ser | |
| XM_011530005.1:c.650A>G | XP_011528307.1:p.Asn217Ser | |
| XM_011530006.1:c.491A>G | XP_011528308.1:p.Asn164Ser | |
| NM_001303256.2:c.626A>G | NP_001290185.1:p.Asn209Ser | |
| NM_001303257.2:c.626A>G | NP_001290186.1:p.Asn209Ser | |
| NM_014941.3:c.440A>G | NP_055756.1:p.Asn147Ser | |
| XM_011530004.2:c.641A>G | XP_011528306.1:p.Asn214Ser | |
| XM_017028667.2:c.641A>G | XP_016884156.1:p.Asn214Ser | |
| NM_001303256.3:c.626A>G MANE Select | NP_001290185.1:p.Asn209Ser |