Linked Data
ClinVar Variation Id:
246587
dbSNP Id:
rs781871113
ExAC:
X:100655697 A / G
gnomAD v2:
X-100655697-A-G
gnomAD v3:
X-101400709-A-G
gnomAD v4:
X-101400709-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101400709A>G , CM000685.2:g.101400709A>G | GRCh38 |
| NC_000023.10:g.100655697A>G , CM000685.1:g.100655697A>G | GRCh37 |
| NC_000023.9:g.100542353A>G | NCBI36 |
| NG_007119.1:g.12255T>C , LRG_672:g.12255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*42T>C (GLA) | ENSP00000501124.2:n.*42T>C | |
| ENST00000674127.2:c.*42T>C (GLA) | ENSP00000501044.2:n.*42T>C | |
| ENST00000710365.1:c.671T>C (GLA) | ENSP00000518234.1:p.Val224Ala | |
| ENST00000218516.4:c.596T>C (GLA) MANE Select | ENSP00000218516.4:p.Val199Ala | |
| ENST00000466414.2:n.515T>C (GLA) | ||
| ENST00000468823.2:n.1531T>C (GLA) | ||
| ENST00000479445.2:n.993T>C (GLA) | ||
| ENST00000480513.6:c.547+923T>C (GLA) | ENSP00000497055.1:n.547+923T>C | |
| ENST00000486121.6:c.641T>C (GLA) | ||
| ENST00000649178.1:c.719T>C (GLA) | ENSP00000498186.1:p.Val240Ala | |
| ENST00000674127.1:c.639T>C (GLA) | ENSP00000501044.1:n.639T>C | |
| ENST00000674142.1:n.683T>C (GLA) | ||
| ENST00000674634.2:c.596T>C (GLA) | ENSP00000502629.2:p.Val199Ala | |
| ENST00000675592.1:c.596T>C (GLA) | ENSP00000502239.1:p.Val199Ala | |
| ENST00000675799.1:c.547+923T>C (GLA) | ENSP00000502661.1:n.547+923T>C | |
| ENST00000675968.1:n.1531T>C (GLA) | ||
| ENST00000676156.1:c.560T>C (GLA) | ENSP00000501730.1:p.Val187Ala | |
| ENST00000676372.1:c.596T>C (GLA) | ENSP00000502805.1:p.Val199Ala | |
| ENST00000218516.3:c.596T>C (GLA) | ENSP00000218516.3:p.Val199Ala | |
| ENST00000409170.3:c.300+5252A>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+5252A>G | |
| ENST00000409338.5:c.177+8887A>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+8887A>G | |
| ENST00000468823.1:n.145T>C (GLA) | ||
| ENST00000480513.5:n.477+923T>C (GLA) | ||
| ENST00000486121.5:n.641T>C (GLA) | ||
| ENST00000493905.6:c.596T>C (GLA) | ENSP00000476935.1:p.Val199Ala | |
| NM_000169.2:c.596T>C , LRG_672t1:c.596T>C (GLA) | NP_000160.1:p.Val199Ala | |
| NM_001199973.1:c.408+5252A>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+5252A>G | |
| NM_001199974.1:c.285+8887A>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+8887A>G | |
| XR_938397.1:n.624T>C (GLA) | ||
| XR_938397.2:n.645T>C (GLA) | ||
| NM_001199973.2:c.300+5252A>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+5252A>G | |
| NM_001199974.2:c.177+8887A>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+8887A>G | |
| NM_000169.3:c.596T>C (GLA) MANE Select | NP_000160.1:p.Val199Ala | |
| NR_164783.1:n.618T>C (GLA) |