Linked Data
ClinVar Variation Id:
42465
dbSNP Id:
rs151208856
ExAC:
X:100653412 G / A
gnomAD v2:
X-100653412-G-A
gnomAD v3:
X-101398424-G-A
gnomAD v4:
X-101398424-G-A
COSMIC:
COSM4105354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398424G>A , CM000685.2:g.101398424G>A | GRCh38 |
| NC_000023.10:g.100653412G>A , CM000685.1:g.100653412G>A | GRCh37 |
| NC_000023.9:g.100540068G>A | NCBI36 |
| NG_007119.1:g.14540C>T , LRG_672:g.14540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*391C>T (GLA) | ENSP00000501124.2:n.*391C>T | |
| ENST00000674127.2:c.*448C>T (GLA) | ENSP00000501044.2:n.*448C>T | |
| ENST00000710365.1:c.1020C>T (GLA) | ENSP00000518234.1:p.Asp340= | |
| ENST00000218516.4:c.945C>T (GLA) MANE Select | ENSP00000218516.4:p.Asp315= | |
| ENST00000466414.2:n.1081C>T (GLA) | ||
| ENST00000468823.2:n.2097C>T (GLA) | ||
| ENST00000479445.2:n.1559C>T (GLA) | ||
| ENST00000480513.6:c.*253C>T (GLA) | ENSP00000497055.1:n.*253C>T | |
| ENST00000486121.6:c.990C>T (GLA) | ||
| ENST00000649178.1:c.1068C>T (GLA) | ENSP00000498186.1:p.Asp356= | |
| ENST00000674127.1:c.1045C>T (GLA) | ENSP00000501044.1:n.1045C>T | |
| ENST00000674142.1:n.1249C>T (GLA) | ||
| ENST00000674634.2:c.945C>T (GLA) | ENSP00000502629.2:p.Asp315= | |
| ENST00000675592.1:c.802-325C>T (GLA) | ENSP00000502239.1:n.802-325C>T | |
| ENST00000675799.1:c.*470C>T (GLA) | ENSP00000502661.1:n.*470C>T | |
| ENST00000675968.1:n.3816C>T (GLA) | ||
| ENST00000676156.1:c.909C>T (GLA) | ENSP00000501730.1:p.Asp303= | |
| ENST00000676372.1:c.1011C>T (GLA) | ENSP00000502805.1:n.1011C>T | |
| ENST00000218516.3:c.945C>T (GLA) | ENSP00000218516.3:p.Asp315= | |
| ENST00000409170.3:c.300+2967G>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2967G>A | |
| ENST00000409338.5:c.177+6602G>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6602G>A | |
| ENST00000466414.1:n.271C>T (GLA) | ||
| ENST00000493905.6:c.*333C>T (GLA) | ENSP00000476935.1:n.*333C>T | |
| NM_000169.2:c.945C>T , LRG_672t1:c.945C>T (GLA) | NP_000160.1:p.Asp315= | |
| NM_001199973.1:c.408+2967G>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2967G>A | |
| NM_001199974.1:c.285+6602G>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6602G>A | |
| XR_938397.1:n.1030C>T (GLA) | ||
| XR_938397.2:n.1051C>T (GLA) | ||
| NM_001199973.2:c.300+2967G>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2967G>A | |
| NM_001199974.2:c.177+6602G>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6602G>A | |
| NM_000169.3:c.945C>T (GLA) MANE Select | NP_000160.1:p.Asp315= | |
| NR_164783.1:n.1024C>T (GLA) |