Linked Data
ClinVar Variation Id:
217380
dbSNP Id:
rs781838005
gnomAD v3:
X-101403941-C-T
gnomAD v4:
X-101403941-C-T
PubMed:
PMID:26415523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101403941C>T , CM000685.2:g.101403941C>T | GRCh38 |
| NC_000023.10:g.100658929C>T , CM000685.1:g.100658929C>T | GRCh37 |
| NC_000023.9:g.100545585C>T | NCBI36 |
| NG_007119.1:g.9023G>A , LRG_672:g.9023G>A | |
| NG_016327.1:g.739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.239G>A (GLA) | ENSP00000501124.2:p.Gly80Asp | |
| ENST00000674127.2:c.239G>A (GLA) | ENSP00000501044.2:p.Gly80Asp | |
| ENST00000710365.1:c.314G>A (GLA) | ENSP00000518234.1:p.Gly105Asp | |
| ENST00000218516.4:c.239G>A (GLA) MANE Select | ENSP00000218516.4:p.Gly80Asp | |
| ENST00000466414.2:n.158G>A (GLA) | ||
| ENST00000468823.2:n.300G>A (GLA) | ||
| ENST00000479445.2:n.237G>A (GLA) | ||
| ENST00000480513.6:c.239G>A (GLA) | ENSP00000497055.1:p.Gly80Asp | |
| ENST00000486121.6:c.169G>A (GLA) | ||
| ENST00000649178.1:c.362G>A (GLA) | ENSP00000498186.1:p.Gly121Asp | |
| ENST00000674127.1:c.167G>A (GLA) | ENSP00000501044.1:p.Gly56Asp | |
| ENST00000674142.1:n.326G>A (GLA) | ||
| ENST00000674634.2:c.239G>A (GLA) | ENSP00000502629.2:p.Gly80Asp | |
| ENST00000675592.1:c.239G>A (GLA) | ENSP00000502239.1:p.Gly80Asp | |
| ENST00000675799.1:c.239G>A (GLA) | ENSP00000502661.1:p.Gly80Asp | |
| ENST00000675968.1:n.300G>A (GLA) | ||
| ENST00000676156.1:c.239G>A (GLA) | ENSP00000501730.1:p.Gly80Asp | |
| ENST00000676372.1:c.239G>A (GLA) | ENSP00000502805.1:p.Gly80Asp | |
| ENST00000218516.3:c.239G>A (GLA) | ENSP00000218516.3:p.Gly80Asp | |
| ENST00000409170.3:c.301-7995C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.301-7995C>T | |
| ENST00000409338.5:c.178-7995C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.178-7995C>T | |
| ENST00000479445.1:n.223G>A (GLA) | ||
| ENST00000480513.5:n.169G>A (GLA) | ||
| ENST00000486121.5:n.169G>A (GLA) | ||
| ENST00000493905.6:c.239G>A (GLA) | ENSP00000476935.1:p.Gly80Asp | |
| NM_000169.2:c.239G>A , LRG_672t1:c.239G>A (GLA) | NP_000160.1:p.Gly80Asp | |
| NM_001199973.1:c.409-7995C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.409-7995C>T | |
| NM_001199974.1:c.286-7995C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.286-7995C>T | |
| XR_938397.1:n.267G>A (GLA) | ||
| XR_938397.2:n.288G>A (GLA) | ||
| NM_001199973.2:c.301-7995C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.301-7995C>T | |
| NM_001199974.2:c.178-7995C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.178-7995C>T | |
| NM_000169.3:c.239G>A (GLA) MANE Select | NP_000160.1:p.Gly80Asp | |
| NR_164783.1:n.261G>A (GLA) |