Linked Data
ClinVar Variation Id:
405511
dbSNP Id:
rs375661583
ExAC:
X:100652903 C / G
gnomAD v2:
X-100652903-C-G
gnomAD v3:
X-101397915-C-G
gnomAD v4:
X-101397915-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397915C>G , CM000685.2:g.101397915C>G | GRCh38 |
| NC_000023.10:g.100652903C>G , CM000685.1:g.100652903C>G | GRCh37 |
| NC_000023.9:g.100539559C>G | NCBI36 |
| NG_007119.1:g.15049G>C , LRG_672:g.15049G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*687G>C (GLA) | ENSP00000501044.2:n.*687G>C | |
| ENST00000710365.1:c.1259G>C (GLA) | ENSP00000518234.1:p.Gly420Ala | |
| ENST00000218516.4:c.1184G>C (GLA) MANE Select | ENSP00000218516.4:p.Gly395Ala | |
| ENST00000466414.2:n.1320G>C (GLA) | ||
| ENST00000468823.2:n.2606G>C (GLA) | ||
| ENST00000479445.2:n.1798G>C (GLA) | ||
| ENST00000649178.1:c.1307G>C (GLA) | ENSP00000498186.1:p.Gly436Ala | |
| ENST00000674127.1:c.1284G>C (GLA) | ENSP00000501044.1:n.1284G>C | |
| ENST00000674142.1:n.1421+67G>C (GLA) | ||
| ENST00000675592.1:c.986G>C (GLA) | ENSP00000502239.1:p.Gly329Ala | |
| ENST00000675799.1:c.*709G>C (GLA) | ENSP00000502661.1:n.*709G>C | |
| ENST00000675968.1:n.4055G>C (GLA) | ||
| ENST00000676156.1:c.1148G>C (GLA) | ENSP00000501730.1:p.Gly383Ala | |
| ENST00000676372.1:c.1250G>C (GLA) | ENSP00000502805.1:n.1250G>C | |
| ENST00000218516.3:c.1184G>C (GLA) | ENSP00000218516.3:p.Gly395Ala | |
| ENST00000409170.3:c.300+2458C>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2458C>G | |
| ENST00000409338.5:c.177+6093C>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6093C>G | |
| ENST00000466414.1:n.510G>C (GLA) | ||
| ENST00000493905.6:c.*572G>C (GLA) | ENSP00000476935.1:n.*572G>C | |
| NM_000169.2:c.1184G>C , LRG_672t1:c.1184G>C (GLA) | NP_000160.1:p.Gly395Ala | |
| NM_001199973.1:c.408+2458C>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2458C>G | |
| NM_001199974.1:c.285+6093C>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6093C>G | |
| XR_938397.1:n.1269G>C (GLA) | ||
| XR_938397.2:n.1290G>C (GLA) | ||
| NM_001199973.2:c.300+2458C>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2458C>G | |
| NM_001199974.2:c.177+6093C>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6093C>G | |
| NM_000169.3:c.1184G>C (GLA) MANE Select | NP_000160.1:p.Gly395Ala | |
| NR_164783.1:n.1263G>C (GLA) |