Linked Data
ClinVar Variation Id:
524212
ClinVar RCV Id:
RCV000627816
dbSNP Id:
rs782756052
ExAC:
X:100652912 C / G
gnomAD v2:
X-100652912-C-G
gnomAD v4:
X-101397924-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397924C>G , CM000685.2:g.101397924C>G | GRCh38 |
| NC_000023.10:g.100652912C>G , CM000685.1:g.100652912C>G | GRCh37 |
| NC_000023.9:g.100539568C>G | NCBI36 |
| NG_007119.1:g.15040G>C , LRG_672:g.15040G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*678G>C (GLA) | ENSP00000501044.2:n.*678G>C | |
| ENST00000710365.1:c.1250G>C (GLA) | ENSP00000518234.1:p.Arg417Thr | |
| ENST00000218516.4:c.1175G>C (GLA) MANE Select | ENSP00000218516.4:p.Arg392Thr | |
| ENST00000466414.2:n.1311G>C (GLA) | ||
| ENST00000468823.2:n.2597G>C (GLA) | ||
| ENST00000479445.2:n.1789G>C (GLA) | ||
| ENST00000649178.1:c.1298G>C (GLA) | ENSP00000498186.1:p.Arg433Thr | |
| ENST00000674127.1:c.1275G>C (GLA) | ENSP00000501044.1:n.1275G>C | |
| ENST00000674142.1:n.1421+58G>C (GLA) | ||
| ENST00000675592.1:c.977G>C (GLA) | ENSP00000502239.1:p.Arg326Thr | |
| ENST00000675799.1:c.*700G>C (GLA) | ENSP00000502661.1:n.*700G>C | |
| ENST00000675968.1:n.4046G>C (GLA) | ||
| ENST00000676156.1:c.1139G>C (GLA) | ENSP00000501730.1:p.Arg380Thr | |
| ENST00000676372.1:c.1241G>C (GLA) | ENSP00000502805.1:n.1241G>C | |
| ENST00000218516.3:c.1175G>C (GLA) | ENSP00000218516.3:p.Arg392Thr | |
| ENST00000409170.3:c.300+2467C>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2467C>G | |
| ENST00000409338.5:c.177+6102C>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6102C>G | |
| ENST00000466414.1:n.501G>C (GLA) | ||
| ENST00000493905.6:c.*563G>C (GLA) | ENSP00000476935.1:n.*563G>C | |
| NM_000169.2:c.1175G>C , LRG_672t1:c.1175G>C (GLA) | NP_000160.1:p.Arg392Thr | |
| NM_001199973.1:c.408+2467C>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2467C>G | |
| NM_001199974.1:c.285+6102C>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6102C>G | |
| XR_938397.1:n.1260G>C (GLA) | ||
| XR_938397.2:n.1281G>C (GLA) | ||
| NM_001199973.2:c.300+2467C>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2467C>G | |
| NM_001199974.2:c.177+6102C>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6102C>G | |
| NM_000169.3:c.1175G>C (GLA) MANE Select | NP_000160.1:p.Arg392Thr | |
| NR_164783.1:n.1254G>C (GLA) |