Linked Data
ClinVar Variation Id:
1114558
ClinVar RCV Id:
RCV001442326
dbSNP Id:
rs2147476264
gnomAD v4:
X-101400765-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101400765A>G , CM000685.2:g.101400765A>G | GRCh38 |
| NC_000023.10:g.100655753A>G , CM000685.1:g.100655753A>G | GRCh37 |
| NC_000023.9:g.100542409A>G | NCBI36 |
| NG_007119.1:g.12199T>C , LRG_672:g.12199T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.663-8T>C (GLA) | ENSP00000501124.2:n.663-8T>C | |
| ENST00000674127.2:c.663-8T>C (GLA) | ENSP00000501044.2:n.663-8T>C | |
| ENST00000710365.1:c.623-8T>C (GLA) | ENSP00000518234.1:n.623-8T>C | |
| ENST00000218516.4:c.548-8T>C (GLA) MANE Select | ENSP00000218516.4:n.548-8T>C | |
| ENST00000466414.2:n.467-8T>C (GLA) | ||
| ENST00000468823.2:n.1475T>C (GLA) | ||
| ENST00000479445.2:n.945-8T>C (GLA) | ||
| ENST00000480513.6:c.547+867T>C (GLA) | ENSP00000497055.1:n.547+867T>C | |
| ENST00000486121.6:c.593-8T>C (GLA) | ||
| ENST00000649178.1:c.671-8T>C (GLA) | ENSP00000498186.1:n.671-8T>C | |
| ENST00000674127.1:c.591-8T>C (GLA) | ENSP00000501044.1:n.591-8T>C | |
| ENST00000674142.1:n.635-8T>C (GLA) | ||
| ENST00000674634.2:c.548-8T>C (GLA) | ENSP00000502629.2:n.548-8T>C | |
| ENST00000675592.1:c.548-8T>C (GLA) | ENSP00000502239.1:n.548-8T>C | |
| ENST00000675799.1:c.547+867T>C (GLA) | ENSP00000502661.1:n.547+867T>C | |
| ENST00000675968.1:n.1475T>C (GLA) | ||
| ENST00000676156.1:c.512-8T>C (GLA) | ENSP00000501730.1:n.512-8T>C | |
| ENST00000676372.1:c.548-8T>C (GLA) | ENSP00000502805.1:n.548-8T>C | |
| ENST00000218516.3:c.548-8T>C (GLA) | ENSP00000218516.3:n.548-8T>C | |
| ENST00000409170.3:c.300+5308A>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+5308A>G | |
| ENST00000409338.5:c.177+8943A>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+8943A>G | |
| ENST00000468823.1:n.89T>C (GLA) | ||
| ENST00000480513.5:n.477+867T>C (GLA) | ||
| ENST00000486121.5:n.593-8T>C (GLA) | ||
| ENST00000493905.6:c.548-8T>C (GLA) | ENSP00000476935.1:n.548-8T>C | |
| NM_000169.2:c.548-8T>C , LRG_672t1:c.548-8T>C (GLA) | NP_000160.1:n.548-8T>C | |
| NM_001199973.1:c.408+5308A>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+5308A>G | |
| NM_001199974.1:c.285+8943A>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+8943A>G | |
| XR_938397.1:n.576-8T>C (GLA) | ||
| XR_938397.2:n.597-8T>C (GLA) | ||
| NM_001199973.2:c.300+5308A>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+5308A>G | |
| NM_001199974.2:c.177+8943A>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+8943A>G | |
| NM_000169.3:c.548-8T>C (GLA) MANE Select | NP_000160.1:n.548-8T>C | |
| NR_164783.1:n.570-8T>C (GLA) |