Linked Data
ClinVar Variation Id:
289807
dbSNP Id:
rs144936899
ExAC:
1:120512286 T / C
gnomAD v2:
1-120512286-T-C
gnomAD v3:
1-119969663-T-C
gnomAD v4:
1-119969663-T-C
COSMIC:
COSM3399614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119969663T>C , CM000663.2:g.119969663T>C | GRCh38 |
| NC_000001.10:g.120512286T>C , CM000663.1:g.120512286T>C | GRCh37 |
| NC_000001.9:g.120313809T>C | NCBI36 |
| NG_008163.1:g.104991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.956A>G MANE Select | ENSP00000256646.2:p.Asn319Ser | |
| ENST00000640021.1:c.176A>G | ENSP00000492223.1:n.176A>G | |
| ENST00000256646.6:c.956A>G | ENSP00000256646.2:p.Asn319Ser | |
| ENST00000479412.2:n.1094A>G | ||
| ENST00000579475.7:c.839A>G | ENSP00000477065.2:p.Asn280Ser | |
| NM_001200001.1:c.956A>G | NP_001186930.1:p.Asn319Ser | |
| NM_024408.3:c.956A>G | NP_077719.2:p.Asn319Ser | |
| XM_005270901.2:c.839A>G | XP_005270958.1:p.Asn280Ser | |
| XM_011541519.1:c.944A>G | XP_011539821.1:p.Asn315Ser | |
| XM_011541520.1:c.839A>G | XP_011539822.1:p.Asn280Ser | |
| NM_024408.4:c.956A>G MANE Select | NP_077719.2:p.Asn319Ser | |
| NM_001200001.2:c.956A>G | NP_001186930.1:p.Asn319Ser |