Linked Data
ClinVar Variation Id:
476787
ClinVar RCV Id:
RCV002341463
dbSNP Id:
rs960083901
gnomAD v4:
1-10368475-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10368475A>G , CM000663.2:g.10368475A>G | GRCh38 |
| NC_000001.10:g.10428533A>G , CM000663.1:g.10428533A>G | GRCh37 |
| NC_000001.9:g.10351120A>G | NCBI36 |
| NG_008069.1:g.162770A>G , LRG_252:g.162770A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.4824A>G | ENSP00000512668.1:p.Gln1608= | |
| ENST00000696503.1:c.4686A>G | ENSP00000512669.1:p.Gln1562= | |
| ENST00000696504.1:c.4686A>G | ENSP00000512670.1:p.Gln1562= | |
| ENST00000676179.1:c.4761A>G MANE Select | ENSP00000502065.1:p.Gln1587= | |
| ENST00000263934.10:c.4623A>G | ENSP00000263934.6:p.Gln1541= | |
| ENST00000377081.5:c.4761A>G | ENSP00000366284.1:p.Gln1587= | |
| ENST00000377086.5:c.4761A>G | ENSP00000366290.1:p.Gln1587= | |
| ENST00000470616.1:n.492A>G | ||
| ENST00000620295.2:c.4719A>G | ENSP00000478500.1:p.Gln1573= | |
| ENST00000622724.3:c.4683A>G | ENSP00000480063.1:p.Gln1561= | |
| ENST00000635499.1:c.806A>G | ||
| NM_015074.3:c.4623A>G , LRG_252t1:c.4623A>G | NP_055889.2:p.Gln1541= | |
| NM_001365951.1:c.4761A>G | NP_001352880.1:p.Gln1587= | |
| NM_001365952.1:c.4761A>G | NP_001352881.1:p.Gln1587= | |
| NM_001365951.3:c.4761A>G MANE Select | NP_001352880.1:p.Gln1587= |