Linked Data
ClinVar Variation Id:
240957
dbSNP Id:
rs117525287
ExAC:
1:10381887 A / G
gnomAD v2:
1-10381887-A-G
gnomAD v3:
1-10321829-A-G
gnomAD v4:
1-10321829-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10321829A>G , CM000663.2:g.10321829A>G | GRCh38 |
| NC_000001.10:g.10381887A>G , CM000663.1:g.10381887A>G | GRCh37 |
| NC_000001.9:g.10304474A>G | NCBI36 |
| NG_008069.1:g.116124A>G , LRG_252:g.116124A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.2192A>G | ENSP00000512668.1:p.Asn731Ser | |
| ENST00000696503.1:c.2255A>G | ENSP00000512669.1:p.Asn752Ser | |
| ENST00000696504.1:c.2255A>G | ENSP00000512670.1:p.Asn752Ser | |
| ENST00000676179.1:c.2330A>G MANE Select | ENSP00000502065.1:p.Asn777Ser | |
| ENST00000263934.10:c.2192A>G | ENSP00000263934.6:p.Asn731Ser | |
| ENST00000377081.5:c.2330A>G | ENSP00000366284.1:p.Asn777Ser | |
| ENST00000377086.5:c.2330A>G | ENSP00000366290.1:p.Asn777Ser | |
| ENST00000620295.2:c.2288A>G | ENSP00000478500.1:p.Asn763Ser | |
| ENST00000622724.3:c.2252A>G | ENSP00000480063.1:p.Asn751Ser | |
| NM_015074.3:c.2192A>G , LRG_252t1:c.2192A>G | NP_055889.2:p.Asn731Ser | |
| NM_001365951.1:c.2330A>G | NP_001352880.1:p.Asn777Ser | |
| NM_001365952.1:c.2330A>G | NP_001352881.1:p.Asn777Ser | |
| NM_001365951.3:c.2330A>G MANE Select | NP_001352880.1:p.Asn777Ser |