Linked Data
ClinVar Variation Id:
10733
dbSNP Id:
rs104894841
gnomAD v3:
X-101398907-G-A
gnomAD v4:
X-101398907-G-A
COSMIC:
COSM275298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398907G>A , CM000685.2:g.101398907G>A | GRCh38 |
| NC_000023.10:g.100653895G>A , CM000685.1:g.100653895G>A | GRCh37 |
| NC_000023.9:g.100540551G>A | NCBI36 |
| NG_007119.1:g.14057C>T , LRG_672:g.14057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*125C>T (GLA) | ENSP00000501124.2:n.*125C>T | |
| ENST00000674127.2:c.*182C>T (GLA) | ENSP00000501044.2:n.*182C>T | |
| ENST00000710365.1:c.754C>T (GLA) | ENSP00000518234.1:p.Arg252Ter | |
| ENST00000218516.4:c.679C>T (GLA) MANE Select | ENSP00000218516.4:p.Arg227Ter | |
| ENST00000466414.2:n.598C>T (GLA) | ||
| ENST00000468823.2:n.1614C>T (GLA) | ||
| ENST00000479445.2:n.1076C>T (GLA) | ||
| ENST00000480513.6:c.587C>T (GLA) | ENSP00000497055.1:p.Ala196Val | |
| ENST00000486121.6:c.724C>T (GLA) | ||
| ENST00000649178.1:c.802C>T (GLA) | ENSP00000498186.1:p.Arg268Ter | |
| ENST00000674127.1:c.779C>T (GLA) | ENSP00000501044.1:n.779C>T | |
| ENST00000674142.1:n.766C>T (GLA) | ||
| ENST00000674634.2:c.679C>T (GLA) | ENSP00000502629.2:p.Arg227Ter | |
| ENST00000675592.1:c.679C>T (GLA) | ENSP00000502239.1:p.Arg227Ter | |
| ENST00000675799.1:c.587C>T (GLA) | ENSP00000502661.1:p.Ala196Val | |
| ENST00000675968.1:n.3333C>T (GLA) | ||
| ENST00000676156.1:c.643C>T (GLA) | ENSP00000501730.1:p.Arg215Ter | |
| ENST00000676372.1:c.679C>T (GLA) | ENSP00000502805.1:p.Arg227Ter | |
| ENST00000218516.3:c.679C>T (GLA) | ENSP00000218516.3:p.Arg227Ter | |
| ENST00000409170.3:c.300+3450G>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3450G>A | |
| ENST00000409338.5:c.177+7085G>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+7085G>A | |
| ENST00000468823.1:n.228C>T (GLA) | ||
| ENST00000480513.5:n.517C>T (GLA) | ||
| ENST00000493905.6:c.*67C>T (GLA) | ENSP00000476935.1:n.*67C>T | |
| NM_000169.2:c.679C>T , LRG_672t1:c.679C>T (GLA) | NP_000160.1:p.Arg227Ter | |
| NM_001199973.1:c.408+3450G>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3450G>A | |
| NM_001199974.1:c.285+7085G>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+7085G>A | |
| XR_938397.1:n.764C>T (GLA) | ||
| XR_938397.2:n.785C>T (GLA) | ||
| NM_001199973.2:c.300+3450G>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3450G>A | |
| NM_001199974.2:c.177+7085G>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+7085G>A | |
| NM_000169.3:c.679C>T (GLA) MANE Select | NP_000160.1:p.Arg227Ter | |
| NR_164783.1:n.758C>T (GLA) |