Linked Data
ClinVar Variation Id:
10744
ClinVar RCV Id:
RCV000011492
dbSNP Id:
rs28935494
PubMed:
PMID:8395937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398018C>G , CM000685.2:g.101398018C>G | GRCh38 |
| NC_000023.10:g.100653006C>G , CM000685.1:g.100653006C>G | GRCh37 |
| NC_000023.9:g.100539662C>G | NCBI36 |
| NG_007119.1:g.14946G>C , LRG_672:g.14946G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*527G>C (GLA) | ENSP00000501124.2:n.*527G>C | |
| ENST00000674127.2:c.*584G>C (GLA) | ENSP00000501044.2:n.*584G>C | |
| ENST00000710365.1:c.1156G>C (GLA) | ENSP00000518234.1:p.Gly386Arg | |
| ENST00000218516.4:c.1081G>C (GLA) MANE Select | ENSP00000218516.4:p.Gly361Arg | |
| ENST00000466414.2:n.1217G>C (GLA) | ||
| ENST00000468823.2:n.2503G>C (GLA) | ||
| ENST00000479445.2:n.1695G>C (GLA) | ||
| ENST00000480513.6:c.*389G>C (GLA) | ENSP00000497055.1:n.*389G>C | |
| ENST00000486121.6:c.1126G>C (GLA) | ||
| ENST00000649178.1:c.1204G>C (GLA) | ENSP00000498186.1:p.Gly402Arg | |
| ENST00000674127.1:c.1181G>C (GLA) | ENSP00000501044.1:n.1181G>C | |
| ENST00000674142.1:n.1385G>C (GLA) | ||
| ENST00000675592.1:c.883G>C (GLA) | ENSP00000502239.1:p.Gly295Arg | |
| ENST00000675799.1:c.*606G>C (GLA) | ENSP00000502661.1:n.*606G>C | |
| ENST00000675968.1:n.3952G>C (GLA) | ||
| ENST00000676156.1:c.1045G>C (GLA) | ENSP00000501730.1:p.Gly349Arg | |
| ENST00000676372.1:c.1147G>C (GLA) | ENSP00000502805.1:n.1147G>C | |
| ENST00000218516.3:c.1081G>C (GLA) | ENSP00000218516.3:p.Gly361Arg | |
| ENST00000409170.3:c.300+2561C>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2561C>G | |
| ENST00000409338.5:c.177+6196C>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6196C>G | |
| ENST00000466414.1:n.407G>C (GLA) | ||
| ENST00000493905.6:c.*469G>C (GLA) | ENSP00000476935.1:n.*469G>C | |
| NM_000169.2:c.1081G>C , LRG_672t1:c.1081G>C (GLA) | NP_000160.1:p.Gly361Arg | |
| NM_001199973.1:c.408+2561C>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2561C>G | |
| NM_001199974.1:c.285+6196C>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6196C>G | |
| XR_938397.1:n.1166G>C (GLA) | ||
| XR_938397.2:n.1187G>C (GLA) | ||
| NM_001199973.2:c.300+2561C>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2561C>G | |
| NM_001199974.2:c.177+6196C>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6196C>G | |
| NM_000169.3:c.1081G>C (GLA) MANE Select | NP_000160.1:p.Gly361Arg | |
| NR_164783.1:n.1160G>C (GLA) |