Linked Data
ClinVar Variation Id:
42460
dbSNP Id:
rs397515872
ExAC:
X:100653860 A / G
gnomAD v2:
X-100653860-A-G
gnomAD v3:
X-101398872-A-G
gnomAD v4:
X-101398872-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398872A>G , CM000685.2:g.101398872A>G | GRCh38 |
| NC_000023.10:g.100653860A>G , CM000685.1:g.100653860A>G | GRCh37 |
| NC_000023.9:g.100540516A>G | NCBI36 |
| NG_007119.1:g.14092T>C , LRG_672:g.14092T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*160T>C (GLA) | ENSP00000501124.2:n.*160T>C | |
| ENST00000674127.2:c.*217T>C (GLA) | ENSP00000501044.2:n.*217T>C | |
| ENST00000710365.1:c.789T>C (GLA) | ENSP00000518234.1:p.Ser263= | |
| ENST00000218516.4:c.714T>C (GLA) MANE Select | ENSP00000218516.4:p.Ser238= | |
| ENST00000466414.2:n.633T>C (GLA) | ||
| ENST00000468823.2:n.1649T>C (GLA) | ||
| ENST00000479445.2:n.1111T>C (GLA) | ||
| ENST00000480513.6:c.*22T>C (GLA) | ENSP00000497055.1:n.*22T>C | |
| ENST00000486121.6:c.759T>C (GLA) | ||
| ENST00000649178.1:c.837T>C (GLA) | ENSP00000498186.1:p.Ser279= | |
| ENST00000674127.1:c.814T>C (GLA) | ENSP00000501044.1:n.814T>C | |
| ENST00000674142.1:n.801T>C (GLA) | ||
| ENST00000674634.2:c.714T>C (GLA) | ENSP00000502629.2:p.Ser238= | |
| ENST00000675592.1:c.714T>C (GLA) | ENSP00000502239.1:p.Ser238= | |
| ENST00000675799.1:c.*22T>C (GLA) | ENSP00000502661.1:n.*22T>C | |
| ENST00000675968.1:n.3368T>C (GLA) | ||
| ENST00000676156.1:c.678T>C (GLA) | ENSP00000501730.1:p.Ser226= | |
| ENST00000676372.1:c.714T>C (GLA) | ENSP00000502805.1:p.Ser238= | |
| ENST00000218516.3:c.714T>C (GLA) | ENSP00000218516.3:p.Ser238= | |
| ENST00000409170.3:c.300+3415A>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3415A>G | |
| ENST00000409338.5:c.177+7050A>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+7050A>G | |
| ENST00000468823.1:n.263T>C (GLA) | ||
| ENST00000480513.5:n.552T>C (GLA) | ||
| ENST00000493905.6:c.*102T>C (GLA) | ENSP00000476935.1:n.*102T>C | |
| NM_000169.2:c.714T>C , LRG_672t1:c.714T>C (GLA) | NP_000160.1:p.Ser238= | |
| NM_001199973.1:c.408+3415A>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3415A>G | |
| NM_001199974.1:c.285+7050A>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+7050A>G | |
| XR_938397.1:n.799T>C (GLA) | ||
| XR_938397.2:n.820T>C (GLA) | ||
| NM_001199973.2:c.300+3415A>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3415A>G | |
| NM_001199974.2:c.177+7050A>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+7050A>G | |
| NM_000169.3:c.714T>C (GLA) MANE Select | NP_000160.1:p.Ser238= | |
| NR_164783.1:n.793T>C (GLA) |