Linked Data
ClinVar Variation Id:
495689
ClinVar RCV Id:
RCV000589205
dbSNP Id:
rs869312214
PubMed:
PMID:26691501
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398078C>A , CM000685.2:g.101398078C>A | GRCh38 |
| NC_000023.10:g.100653066C>A , CM000685.1:g.100653066C>A | GRCh37 |
| NC_000023.9:g.100539722C>A | NCBI36 |
| NG_007119.1:g.14886G>T , LRG_672:g.14886G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*467G>T (GLA) | ENSP00000501124.2:n.*467G>T | |
| ENST00000674127.2:c.*524G>T (GLA) | ENSP00000501044.2:n.*524G>T | |
| ENST00000710365.1:c.1096G>T (GLA) | ENSP00000518234.1:p.Glu366Ter | |
| ENST00000218516.4:c.1021G>T (GLA) MANE Select | ENSP00000218516.4:p.Glu341Ter | |
| ENST00000466414.2:n.1157G>T (GLA) | ||
| ENST00000468823.2:n.2443G>T (GLA) | ||
| ENST00000479445.2:n.1635G>T (GLA) | ||
| ENST00000480513.6:c.*329G>T (GLA) | ENSP00000497055.1:n.*329G>T | |
| ENST00000486121.6:c.1066G>T (GLA) | ||
| ENST00000649178.1:c.1144G>T (GLA) | ENSP00000498186.1:p.Glu382Ter | |
| ENST00000674127.1:c.1121G>T (GLA) | ENSP00000501044.1:n.1121G>T | |
| ENST00000674142.1:n.1325G>T (GLA) | ||
| ENST00000675592.1:c.823G>T (GLA) | ENSP00000502239.1:p.Glu275Ter | |
| ENST00000675799.1:c.*546G>T (GLA) | ENSP00000502661.1:n.*546G>T | |
| ENST00000675968.1:n.3892G>T (GLA) | ||
| ENST00000676156.1:c.985G>T (GLA) | ENSP00000501730.1:p.Glu329Ter | |
| ENST00000676372.1:c.1087G>T (GLA) | ENSP00000502805.1:n.1087G>T | |
| ENST00000218516.3:c.1021G>T (GLA) | ENSP00000218516.3:p.Glu341Ter | |
| ENST00000409170.3:c.300+2621C>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2621C>A | |
| ENST00000409338.5:c.177+6256C>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6256C>A | |
| ENST00000466414.1:n.347G>T (GLA) | ||
| ENST00000493905.6:c.*409G>T (GLA) | ENSP00000476935.1:n.*409G>T | |
| NM_000169.2:c.1021G>T , LRG_672t1:c.1021G>T (GLA) | NP_000160.1:p.Glu341Ter | |
| NM_001199973.1:c.408+2621C>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2621C>A | |
| NM_001199974.1:c.285+6256C>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6256C>A | |
| XR_938397.1:n.1106G>T (GLA) | ||
| XR_938397.2:n.1127G>T (GLA) | ||
| NM_001199973.2:c.300+2621C>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2621C>A | |
| NM_001199974.2:c.177+6256C>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6256C>A | |
| NM_000169.3:c.1021G>T (GLA) MANE Select | NP_000160.1:p.Glu341Ter | |
| NR_164783.1:n.1100G>T (GLA) |