Linked Data
ClinVar Variation Id:
217391
dbSNP Id:
rs869312149
gnomAD v4:
X-101400667-T-C
PubMed:
PMID:26415523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101400667T>C , CM000685.2:g.101400667T>C | GRCh38 |
| NC_000023.10:g.100655655T>C , CM000685.1:g.100655655T>C | GRCh37 |
| NC_000023.9:g.100542311T>C | NCBI36 |
| NG_007119.1:g.12297A>G , LRG_672:g.12297A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*84A>G (GLA) | ENSP00000501124.2:n.*84A>G | |
| ENST00000674127.2:c.*84A>G (GLA) | ENSP00000501044.2:n.*84A>G | |
| ENST00000710365.1:c.713A>G (GLA) | ENSP00000518234.1:p.Lys238Arg | |
| ENST00000218516.4:c.638A>G (GLA) MANE Select | ENSP00000218516.4:p.Lys213Arg | |
| ENST00000466414.2:n.557A>G (GLA) | ||
| ENST00000468823.2:n.1573A>G (GLA) | ||
| ENST00000479445.2:n.1035A>G (GLA) | ||
| ENST00000480513.6:c.547+965A>G (GLA) | ENSP00000497055.1:n.547+965A>G | |
| ENST00000486121.6:c.683A>G (GLA) | ||
| ENST00000649178.1:c.761A>G (GLA) | ENSP00000498186.1:p.Lys254Arg | |
| ENST00000674127.1:c.681A>G (GLA) | ENSP00000501044.1:n.681A>G | |
| ENST00000674142.1:n.725A>G (GLA) | ||
| ENST00000674634.2:c.638A>G (GLA) | ENSP00000502629.2:p.Lys213Arg | |
| ENST00000675592.1:c.638A>G (GLA) | ENSP00000502239.1:p.Lys213Arg | |
| ENST00000675799.1:c.547+965A>G (GLA) | ENSP00000502661.1:n.547+965A>G | |
| ENST00000675968.1:n.1573A>G (GLA) | ||
| ENST00000676156.1:c.602A>G (GLA) | ENSP00000501730.1:p.Lys201Arg | |
| ENST00000676372.1:c.638A>G (GLA) | ENSP00000502805.1:p.Lys213Arg | |
| ENST00000218516.3:c.638A>G (GLA) | ENSP00000218516.3:p.Lys213Arg | |
| ENST00000409170.3:c.300+5210T>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+5210T>C | |
| ENST00000409338.5:c.177+8845T>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+8845T>C | |
| ENST00000468823.1:n.187A>G (GLA) | ||
| ENST00000480513.5:n.477+965A>G (GLA) | ||
| ENST00000486121.5:n.683A>G (GLA) | ||
| ENST00000493905.6:c.638A>G (GLA) | ENSP00000476935.1:p.Lys213Arg | |
| NM_000169.2:c.638A>G , LRG_672t1:c.638A>G (GLA) | NP_000160.1:p.Lys213Arg | |
| NM_001199973.1:c.408+5210T>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+5210T>C | |
| NM_001199974.1:c.285+8845T>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+8845T>C | |
| XR_938397.1:n.666A>G (GLA) | ||
| XR_938397.2:n.687A>G (GLA) | ||
| NM_001199973.2:c.300+5210T>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+5210T>C | |
| NM_001199974.2:c.177+8845T>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+8845T>C | |
| NM_000169.3:c.638A>G (GLA) MANE Select | NP_000160.1:p.Lys213Arg | |
| NR_164783.1:n.660A>G (GLA) |