Linked Data
ClinVar Variation Id:
10742
dbSNP Id:
rs28935493
gnomAD v3:
X-101398074-C-T
gnomAD v4:
X-101398074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398074C>T , CM000685.2:g.101398074C>T | GRCh38 |
| NC_000023.10:g.100653062C>T , CM000685.1:g.100653062C>T | GRCh37 |
| NC_000023.9:g.100539718C>T | NCBI36 |
| NG_007119.1:g.14890G>A , LRG_672:g.14890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*471G>A (GLA) | ENSP00000501124.2:n.*471G>A | |
| ENST00000674127.2:c.*528G>A (GLA) | ENSP00000501044.2:n.*528G>A | |
| ENST00000710365.1:c.1100G>A (GLA) | ENSP00000518234.1:p.Arg367Gln | |
| ENST00000218516.4:c.1025G>A (GLA) MANE Select | ENSP00000218516.4:p.Arg342Gln | |
| ENST00000466414.2:n.1161G>A (GLA) | ||
| ENST00000468823.2:n.2447G>A (GLA) | ||
| ENST00000479445.2:n.1639G>A (GLA) | ||
| ENST00000480513.6:c.*333G>A (GLA) | ENSP00000497055.1:n.*333G>A | |
| ENST00000486121.6:c.1070G>A (GLA) | ||
| ENST00000649178.1:c.1148G>A (GLA) | ENSP00000498186.1:p.Arg383Gln | |
| ENST00000674127.1:c.1125G>A (GLA) | ENSP00000501044.1:n.1125G>A | |
| ENST00000674142.1:n.1329G>A (GLA) | ||
| ENST00000675592.1:c.827G>A (GLA) | ENSP00000502239.1:p.Arg276Gln | |
| ENST00000675799.1:c.*550G>A (GLA) | ENSP00000502661.1:n.*550G>A | |
| ENST00000675968.1:n.3896G>A (GLA) | ||
| ENST00000676156.1:c.989G>A (GLA) | ENSP00000501730.1:p.Arg330Gln | |
| ENST00000676372.1:c.1091G>A (GLA) | ENSP00000502805.1:n.1091G>A | |
| ENST00000218516.3:c.1025G>A (GLA) | ENSP00000218516.3:p.Arg342Gln | |
| ENST00000409170.3:c.300+2617C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2617C>T | |
| ENST00000409338.5:c.177+6252C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6252C>T | |
| ENST00000466414.1:n.351G>A (GLA) | ||
| ENST00000493905.6:c.*413G>A (GLA) | ENSP00000476935.1:n.*413G>A | |
| NM_000169.2:c.1025G>A , LRG_672t1:c.1025G>A (GLA) | NP_000160.1:p.Arg342Gln | |
| NM_001199973.1:c.408+2617C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2617C>T | |
| NM_001199974.1:c.285+6252C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6252C>T | |
| XR_938397.1:n.1110G>A (GLA) | ||
| XR_938397.2:n.1131G>A (GLA) | ||
| NM_001199973.2:c.300+2617C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2617C>T | |
| NM_001199974.2:c.177+6252C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6252C>T | |
| NM_000169.3:c.1025G>A (GLA) MANE Select | NP_000160.1:p.Arg342Gln | |
| NR_164783.1:n.1104G>A (GLA) |