Linked Data
ClinVar Variation Id:
167142
dbSNP Id:
rs727503950
gnomAD v2:
X-100655700-A-G
gnomAD v3:
X-101400712-A-G
gnomAD v4:
X-101400712-A-G
PubMed:
PMID:26415523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101400712A>G , CM000685.2:g.101400712A>G | GRCh38 |
| NC_000023.10:g.100655700A>G , CM000685.1:g.100655700A>G | GRCh37 |
| NC_000023.9:g.100542356A>G | NCBI36 |
| NG_007119.1:g.12252T>C , LRG_672:g.12252T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*39T>C (GLA) | ENSP00000501124.2:n.*39T>C | |
| ENST00000674127.2:c.*39T>C (GLA) | ENSP00000501044.2:n.*39T>C | |
| ENST00000710365.1:c.668T>C (GLA) | ENSP00000518234.1:p.Ile223Thr | |
| ENST00000218516.4:c.593T>C (GLA) MANE Select | ENSP00000218516.4:p.Ile198Thr | |
| ENST00000466414.2:n.512T>C (GLA) | ||
| ENST00000468823.2:n.1528T>C (GLA) | ||
| ENST00000479445.2:n.990T>C (GLA) | ||
| ENST00000480513.6:c.547+920T>C (GLA) | ENSP00000497055.1:n.547+920T>C | |
| ENST00000486121.6:c.638T>C (GLA) | ||
| ENST00000649178.1:c.716T>C (GLA) | ENSP00000498186.1:p.Ile239Thr | |
| ENST00000674127.1:c.636T>C (GLA) | ENSP00000501044.1:n.636T>C | |
| ENST00000674142.1:n.680T>C (GLA) | ||
| ENST00000674634.2:c.593T>C (GLA) | ENSP00000502629.2:p.Ile198Thr | |
| ENST00000675592.1:c.593T>C (GLA) | ENSP00000502239.1:p.Ile198Thr | |
| ENST00000675799.1:c.547+920T>C (GLA) | ENSP00000502661.1:n.547+920T>C | |
| ENST00000675968.1:n.1528T>C (GLA) | ||
| ENST00000676156.1:c.557T>C (GLA) | ENSP00000501730.1:p.Ile186Thr | |
| ENST00000676372.1:c.593T>C (GLA) | ENSP00000502805.1:p.Ile198Thr | |
| ENST00000218516.3:c.593T>C (GLA) | ENSP00000218516.3:p.Ile198Thr | |
| ENST00000409170.3:c.300+5255A>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+5255A>G | |
| ENST00000409338.5:c.177+8890A>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+8890A>G | |
| ENST00000468823.1:n.142T>C (GLA) | ||
| ENST00000480513.5:n.477+920T>C (GLA) | ||
| ENST00000486121.5:n.638T>C (GLA) | ||
| ENST00000493905.6:c.593T>C (GLA) | ENSP00000476935.1:p.Ile198Thr | |
| NM_000169.2:c.593T>C , LRG_672t1:c.593T>C (GLA) | NP_000160.1:p.Ile198Thr | |
| NM_001199973.1:c.408+5255A>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+5255A>G | |
| NM_001199974.1:c.285+8890A>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+8890A>G | |
| XR_938397.1:n.621T>C (GLA) | ||
| XR_938397.2:n.642T>C (GLA) | ||
| NM_001199973.2:c.300+5255A>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+5255A>G | |
| NM_001199974.2:c.177+8890A>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+8890A>G | |
| NM_000169.3:c.593T>C (GLA) MANE Select | NP_000160.1:p.Ile198Thr | |
| NR_164783.1:n.615T>C (GLA) |