Linked Data
ClinVar Variation Id:
10716
ClinVar RCV Id:
RCV000011463
dbSNP Id:
rs104894829
PubMed:
PMID:2171331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101407773C>T , CM000685.2:g.101407773C>T | GRCh38 |
| NC_000023.10:g.100662761C>T , CM000685.1:g.100662761C>T | GRCh37 |
| NC_000023.9:g.100549417C>T | NCBI36 |
| NG_007119.1:g.5191G>A , LRG_672:g.5191G>A | |
| NG_016327.1:g.4571C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.131G>A (GLA) | ENSP00000501124.2:p.Trp44Ter | |
| ENST00000674127.2:c.131G>A (GLA) | ENSP00000501044.2:p.Trp44Ter | |
| ENST00000710365.1:c.131G>A (GLA) | ENSP00000518234.1:p.Trp44Ter | |
| ENST00000218516.4:c.131G>A (GLA) MANE Select | ENSP00000218516.4:p.Trp44Ter | |
| ENST00000466414.2:n.50G>A (GLA) | ||
| ENST00000468823.2:n.192G>A (GLA) | ||
| ENST00000479445.2:n.129G>A (GLA) | ||
| ENST00000480513.6:c.131G>A (GLA) | ENSP00000497055.1:p.Trp44Ter | |
| ENST00000486121.6:c.61G>A (GLA) | ||
| ENST00000649178.1:c.131G>A (GLA) | ENSP00000498186.1:p.Trp44Ter | |
| ENST00000674127.1:c.59G>A (GLA) | ENSP00000501044.1:p.Trp20Ter | |
| ENST00000674142.1:n.218G>A (GLA) | ||
| ENST00000674634.2:c.131G>A (GLA) | ENSP00000502629.2:p.Trp44Ter | |
| ENST00000675592.1:c.131G>A (GLA) | ENSP00000502239.1:p.Trp44Ter | |
| ENST00000675799.1:c.131G>A (GLA) | ENSP00000502661.1:p.Trp44Ter | |
| ENST00000675968.1:n.192G>A (GLA) | ||
| ENST00000676156.1:c.131G>A (GLA) | ENSP00000501730.1:p.Trp44Ter | |
| ENST00000676372.1:c.131G>A (GLA) | ENSP00000502805.1:p.Trp44Ter | |
| ENST00000218516.3:c.131G>A (GLA) | ENSP00000218516.3:p.Trp44Ter | |
| ENST00000409170.3:c.301-4163C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.301-4163C>T | |
| ENST00000409338.5:c.178-4163C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.178-4163C>T | |
| ENST00000479445.1:n.115G>A (GLA) | ||
| ENST00000480513.5:n.61G>A (GLA) | ||
| ENST00000486121.5:n.61G>A (GLA) | ||
| ENST00000493905.6:c.131G>A (GLA) | ENSP00000476935.1:p.Trp44Ter | |
| NM_000169.2:c.131G>A , LRG_672t1:c.131G>A (GLA) | NP_000160.1:p.Trp44Ter | |
| NM_001199973.1:c.409-4163C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.409-4163C>T | |
| NM_001199974.1:c.286-4163C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.286-4163C>T | |
| XR_938397.1:n.159G>A (GLA) | ||
| XR_938397.2:n.180G>A (GLA) | ||
| NM_001199973.2:c.301-4163C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.301-4163C>T | |
| NM_001199974.2:c.178-4163C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.178-4163C>T | |
| NM_000169.3:c.131G>A (GLA) MANE Select | NP_000160.1:p.Trp44Ter | |
| NR_164783.1:n.153G>A (GLA) |