Linked Data
ClinVar Variation Id:
291520
dbSNP Id:
rs763679404
ExAC:
1:10342498 A / G
gnomAD v2:
1-10342498-A-G
gnomAD v3:
1-10282440-A-G
gnomAD v4:
1-10282440-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10282440A>G , CM000663.2:g.10282440A>G | GRCh38 |
| NC_000001.10:g.10342498A>G , CM000663.1:g.10342498A>G | GRCh37 |
| NC_000001.9:g.10265085A>G | NCBI36 |
| NG_008069.1:g.76735A>G , LRG_252:g.76735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696500.1:c.*375A>G | ENSP00000512666.1:n.*375A>G | |
| ENST00000696502.1:c.1203A>G | ENSP00000512668.1:p.Ser401= | |
| ENST00000696503.1:c.1203A>G | ENSP00000512669.1:p.Ser401= | |
| ENST00000696504.1:c.1203A>G | ENSP00000512670.1:p.Ser401= | |
| ENST00000696507.1:c.41A>G | ||
| ENST00000377093.9:c.1203A>G | ENSP00000366297.4:p.Ser401= | |
| ENST00000676179.1:c.1341A>G MANE Select | ENSP00000502065.1:p.Ser447= | |
| ENST00000263934.10:c.1203A>G | ENSP00000263934.6:p.Ser401= | |
| ENST00000377081.5:c.1341A>G | ENSP00000366284.1:p.Ser447= | |
| ENST00000377083.5:c.1203A>G | ENSP00000366287.1:p.Ser401= | |
| ENST00000377086.5:c.1341A>G | ENSP00000366290.1:p.Ser447= | |
| ENST00000377093.8:c.1203A>G | ENSP00000366297.4:p.Ser401= | |
| ENST00000620295.2:c.1299A>G | ENSP00000478500.1:p.Ser433= | |
| ENST00000622724.3:c.1263A>G | ENSP00000480063.1:p.Ser421= | |
| NM_015074.3:c.1203A>G , LRG_252t1:c.1203A>G | NP_055889.2:p.Ser401= | |
| NM_183416.3:c.1203A>G | NP_904325.2:p.Ser401= | |
| NM_001365951.1:c.1341A>G | NP_001352880.1:p.Ser447= | |
| NM_001365952.1:c.1341A>G | NP_001352881.1:p.Ser447= | |
| NM_001365953.1:c.1203A>G | NP_001352882.1:p.Ser401= | |
| NM_001365951.3:c.1341A>G MANE Select | NP_001352880.1:p.Ser447= | |
| NM_183416.4:c.1203A>G | NP_904325.2:p.Ser401= |