Linked Data
ClinVar Variation Id:
217396
dbSNP Id:
rs397515873
gnomAD v3:
X-101398862-T-C
gnomAD v4:
X-101398862-T-C
PubMed:
PMID:26415523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398862T>C , CM000685.2:g.101398862T>C | GRCh38 |
| NC_000023.10:g.100653850T>C , CM000685.1:g.100653850T>C | GRCh37 |
| NC_000023.9:g.100540506T>C | NCBI36 |
| NG_007119.1:g.14102A>G , LRG_672:g.14102A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*170A>G (GLA) | ENSP00000501124.2:n.*170A>G | |
| ENST00000674127.2:c.*227A>G (GLA) | ENSP00000501044.2:n.*227A>G | |
| ENST00000710365.1:c.799A>G (GLA) | ENSP00000518234.1:p.Ile267Val | |
| ENST00000218516.4:c.724A>G (GLA) MANE Select | ENSP00000218516.4:p.Ile242Val | |
| ENST00000466414.2:n.643A>G (GLA) | ||
| ENST00000468823.2:n.1659A>G (GLA) | ||
| ENST00000479445.2:n.1121A>G (GLA) | ||
| ENST00000480513.6:c.*32A>G (GLA) | ENSP00000497055.1:n.*32A>G | |
| ENST00000486121.6:c.769A>G (GLA) | ||
| ENST00000649178.1:c.847A>G (GLA) | ENSP00000498186.1:p.Ile283Val | |
| ENST00000674127.1:c.824A>G (GLA) | ENSP00000501044.1:n.824A>G | |
| ENST00000674142.1:n.811A>G (GLA) | ||
| ENST00000674634.2:c.724A>G (GLA) | ENSP00000502629.2:p.Ile242Val | |
| ENST00000675592.1:c.724A>G (GLA) | ENSP00000502239.1:p.Ile242Val | |
| ENST00000675799.1:c.*32A>G (GLA) | ENSP00000502661.1:n.*32A>G | |
| ENST00000675968.1:n.3378A>G (GLA) | ||
| ENST00000676156.1:c.688A>G (GLA) | ENSP00000501730.1:p.Ile230Val | |
| ENST00000676372.1:c.724A>G (GLA) | ENSP00000502805.1:p.Ile242Val | |
| ENST00000218516.3:c.724A>G (GLA) | ENSP00000218516.3:p.Ile242Val | |
| ENST00000409170.3:c.300+3405T>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3405T>C | |
| ENST00000409338.5:c.177+7040T>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+7040T>C | |
| ENST00000468823.1:n.273A>G (GLA) | ||
| ENST00000480513.5:n.562A>G (GLA) | ||
| ENST00000493905.6:c.*112A>G (GLA) | ENSP00000476935.1:n.*112A>G | |
| NM_000169.2:c.724A>G , LRG_672t1:c.724A>G (GLA) | NP_000160.1:p.Ile242Val | |
| NM_001199973.1:c.408+3405T>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3405T>C | |
| NM_001199974.1:c.285+7040T>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+7040T>C | |
| XR_938397.1:n.809A>G (GLA) | ||
| XR_938397.2:n.830A>G (GLA) | ||
| NM_001199973.2:c.300+3405T>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3405T>C | |
| NM_001199974.2:c.177+7040T>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+7040T>C | |
| NM_000169.3:c.724A>G (GLA) MANE Select | NP_000160.1:p.Ile242Val | |
| NR_164783.1:n.803A>G (GLA) |