Linked Data
ClinVar Variation Id:
92567
ClinVar RCV Id:
RCV000078298
dbSNP Id:
rs398123222
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398546G>A , CM000685.2:g.101398546G>A | GRCh38 |
| NC_000023.10:g.100653534G>A , CM000685.1:g.100653534G>A | GRCh37 |
| NC_000023.9:g.100540190G>A | NCBI36 |
| NG_007119.1:g.14418C>T , LRG_672:g.14418C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486121.7:c.*269C>T (GLA) | ENSP00000501124.2:n.*269C>T | |
| ENST00000674127.2:c.*326C>T (GLA) | ENSP00000501044.2:n.*326C>T | |
| ENST00000710365.1:c.898C>T (GLA) | ENSP00000518234.1:p.Leu300Phe | |
| ENST00000218516.4:c.823C>T (GLA) MANE Select | ENSP00000218516.4:p.Leu275Phe | |
| ENST00000466414.2:n.959C>T (GLA) | ||
| ENST00000468823.2:n.1975C>T (GLA) | ||
| ENST00000479445.2:n.1437C>T (GLA) | ||
| ENST00000480513.6:c.*131C>T (GLA) | ENSP00000497055.1:n.*131C>T | |
| ENST00000486121.6:c.868C>T (GLA) | ||
| ENST00000649178.1:c.946C>T (GLA) | ENSP00000498186.1:p.Leu316Phe | |
| ENST00000674127.1:c.923C>T (GLA) | ENSP00000501044.1:n.923C>T | |
| ENST00000674142.1:n.1127C>T (GLA) | ||
| ENST00000674634.2:c.823C>T (GLA) | ENSP00000502629.2:p.Leu275Phe | |
| ENST00000675592.1:c.801+239C>T (GLA) | ENSP00000502239.1:n.801+239C>T | |
| ENST00000675799.1:c.*348C>T (GLA) | ENSP00000502661.1:n.*348C>T | |
| ENST00000675968.1:n.3694C>T (GLA) | ||
| ENST00000676156.1:c.787C>T (GLA) | ENSP00000501730.1:p.Leu263Phe | |
| ENST00000676372.1:c.889C>T (GLA) | ENSP00000502805.1:n.889C>T | |
| ENST00000218516.3:c.823C>T (GLA) | ENSP00000218516.3:p.Leu275Phe | |
| ENST00000409170.3:c.300+3089G>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3089G>A | |
| ENST00000409338.5:c.177+6724G>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6724G>A | |
| ENST00000466414.1:n.149C>T (GLA) | ||
| ENST00000468823.1:n.589C>T (GLA) | ||
| ENST00000493905.6:c.*211C>T (GLA) | ENSP00000476935.1:n.*211C>T | |
| NM_000169.2:c.823C>T , LRG_672t1:c.823C>T (GLA) | NP_000160.1:p.Leu275Phe | |
| NM_001199973.1:c.408+3089G>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3089G>A | |
| NM_001199974.1:c.285+6724G>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6724G>A | |
| XR_938397.1:n.908C>T (GLA) | ||
| XR_938397.2:n.929C>T (GLA) | ||
| NM_001199973.2:c.300+3089G>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3089G>A | |
| NM_001199974.2:c.177+6724G>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6724G>A | |
| NM_000169.3:c.823C>T (GLA) MANE Select | NP_000160.1:p.Leu275Phe | |
| NR_164783.1:n.902C>T (GLA) |