Linked Data
ClinVar Variation Id:
629461
ClinVar RCV Id:
RCV000774168
dbSNP Id:
rs1465021475
gnomAD v3:
X-101398455-G-A
gnomAD v4:
X-101398455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398455G>A , CM000685.2:g.101398455G>A | GRCh38 |
| NC_000023.10:g.100653443G>A , CM000685.1:g.100653443G>A | GRCh37 |
| NC_000023.9:g.100540099G>A | NCBI36 |
| NG_007119.1:g.14509C>T , LRG_672:g.14509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*360C>T (GLA) | ENSP00000501124.2:n.*360C>T | |
| ENST00000674127.2:c.*417C>T (GLA) | ENSP00000501044.2:n.*417C>T | |
| ENST00000710365.1:c.989C>T (GLA) | ENSP00000518234.1:p.Pro330Leu | |
| ENST00000218516.4:c.914C>T (GLA) MANE Select | ENSP00000218516.4:p.Pro305Leu | |
| ENST00000466414.2:n.1050C>T (GLA) | ||
| ENST00000468823.2:n.2066C>T (GLA) | ||
| ENST00000479445.2:n.1528C>T (GLA) | ||
| ENST00000480513.6:c.*222C>T (GLA) | ENSP00000497055.1:n.*222C>T | |
| ENST00000486121.6:c.959C>T (GLA) | ||
| ENST00000649178.1:c.1037C>T (GLA) | ENSP00000498186.1:p.Pro346Leu | |
| ENST00000674127.1:c.1014C>T (GLA) | ENSP00000501044.1:n.1014C>T | |
| ENST00000674142.1:n.1218C>T (GLA) | ||
| ENST00000674634.2:c.914C>T (GLA) | ENSP00000502629.2:p.Pro305Leu | |
| ENST00000675592.1:c.801+330C>T (GLA) | ENSP00000502239.1:n.801+330C>T | |
| ENST00000675799.1:c.*439C>T (GLA) | ENSP00000502661.1:n.*439C>T | |
| ENST00000675968.1:n.3785C>T (GLA) | ||
| ENST00000676156.1:c.878C>T (GLA) | ENSP00000501730.1:p.Pro293Leu | |
| ENST00000676372.1:c.980C>T (GLA) | ENSP00000502805.1:n.980C>T | |
| ENST00000218516.3:c.914C>T (GLA) | ENSP00000218516.3:p.Pro305Leu | |
| ENST00000409170.3:c.300+2998G>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2998G>A | |
| ENST00000409338.5:c.177+6633G>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6633G>A | |
| ENST00000466414.1:n.240C>T (GLA) | ||
| ENST00000493905.6:c.*302C>T (GLA) | ENSP00000476935.1:n.*302C>T | |
| NM_000169.2:c.914C>T , LRG_672t1:c.914C>T (GLA) | NP_000160.1:p.Pro305Leu | |
| NM_001199973.1:c.408+2998G>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2998G>A | |
| NM_001199974.1:c.285+6633G>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6633G>A | |
| XR_938397.1:n.999C>T (GLA) | ||
| XR_938397.2:n.1020C>T (GLA) | ||
| NM_001199973.2:c.300+2998G>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2998G>A | |
| NM_001199974.2:c.177+6633G>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6633G>A | |
| NM_000169.3:c.914C>T (GLA) MANE Select | NP_000160.1:p.Pro305Leu | |
| NR_164783.1:n.993C>T (GLA) |