Linked Data
ClinVar Variation Id:
281678
dbSNP Id:
rs886044779
gnomAD v3:
X-101397918-A-G
gnomAD v4:
X-101397918-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397918A>G , CM000685.2:g.101397918A>G | GRCh38 |
| NC_000023.10:g.100652906A>G , CM000685.1:g.100652906A>G | GRCh37 |
| NC_000023.9:g.100539562A>G | NCBI36 |
| NG_007119.1:g.15046T>C , LRG_672:g.15046T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*684T>C (GLA) | ENSP00000501044.2:n.*684T>C | |
| ENST00000710365.1:c.1256T>C (GLA) | ENSP00000518234.1:p.Leu419Pro | |
| ENST00000218516.4:c.1181T>C (GLA) MANE Select | ENSP00000218516.4:p.Leu394Pro | |
| ENST00000466414.2:n.1317T>C (GLA) | ||
| ENST00000468823.2:n.2603T>C (GLA) | ||
| ENST00000479445.2:n.1795T>C (GLA) | ||
| ENST00000649178.1:c.1304T>C (GLA) | ENSP00000498186.1:p.Leu435Pro | |
| ENST00000674127.1:c.1281T>C (GLA) | ENSP00000501044.1:n.1281T>C | |
| ENST00000674142.1:n.1421+64T>C (GLA) | ||
| ENST00000675592.1:c.983T>C (GLA) | ENSP00000502239.1:p.Leu328Pro | |
| ENST00000675799.1:c.*706T>C (GLA) | ENSP00000502661.1:n.*706T>C | |
| ENST00000675968.1:n.4052T>C (GLA) | ||
| ENST00000676156.1:c.1145T>C (GLA) | ENSP00000501730.1:p.Leu382Pro | |
| ENST00000676372.1:c.1247T>C (GLA) | ENSP00000502805.1:n.1247T>C | |
| ENST00000218516.3:c.1181T>C (GLA) | ENSP00000218516.3:p.Leu394Pro | |
| ENST00000409170.3:c.300+2461A>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2461A>G | |
| ENST00000409338.5:c.177+6096A>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6096A>G | |
| ENST00000466414.1:n.507T>C (GLA) | ||
| ENST00000493905.6:c.*569T>C (GLA) | ENSP00000476935.1:n.*569T>C | |
| NM_000169.2:c.1181T>C , LRG_672t1:c.1181T>C (GLA) | NP_000160.1:p.Leu394Pro | |
| NM_001199973.1:c.408+2461A>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2461A>G | |
| NM_001199974.1:c.285+6096A>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6096A>G | |
| XR_938397.1:n.1266T>C (GLA) | ||
| XR_938397.2:n.1287T>C (GLA) | ||
| NM_001199973.2:c.300+2461A>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2461A>G | |
| NM_001199974.2:c.177+6096A>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6096A>G | |
| NM_000169.3:c.1181T>C (GLA) MANE Select | NP_000160.1:p.Leu394Pro | |
| NR_164783.1:n.1260T>C (GLA) |