Linked Data
ClinVar Variation Id:
10770
dbSNP Id:
rs104894851
gnomAD v4:
X-101398920-G-T
PubMed:
PMID:12694230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398920G>T , CM000685.2:g.101398920G>T | GRCh38 |
| NC_000023.10:g.100653908G>T , CM000685.1:g.100653908G>T | GRCh37 |
| NC_000023.9:g.100540564G>T | NCBI36 |
| NG_007119.1:g.14044C>A , LRG_672:g.14044C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486121.7:c.*112C>A (GLA) | ENSP00000501124.2:n.*112C>A | |
| ENST00000674127.2:c.*169C>A (GLA) | ENSP00000501044.2:n.*169C>A | |
| ENST00000710365.1:c.741C>A (GLA) | ENSP00000518234.1:p.Tyr247Ter | |
| ENST00000218516.4:c.666C>A (GLA) MANE Select | ENSP00000218516.4:p.Tyr222Ter | |
| ENST00000466414.2:n.585C>A (GLA) | ||
| ENST00000468823.2:n.1601C>A (GLA) | ||
| ENST00000479445.2:n.1063C>A (GLA) | ||
| ENST00000480513.6:c.574C>A (GLA) | ENSP00000497055.1:p.Leu192Met | |
| ENST00000486121.6:c.711C>A (GLA) | ||
| ENST00000649178.1:c.789C>A (GLA) | ENSP00000498186.1:p.Tyr263Ter | |
| ENST00000674127.1:c.766C>A (GLA) | ENSP00000501044.1:n.766C>A | |
| ENST00000674142.1:n.753C>A (GLA) | ||
| ENST00000674634.2:c.666C>A (GLA) | ENSP00000502629.2:p.Tyr222Ter | |
| ENST00000675592.1:c.666C>A (GLA) | ENSP00000502239.1:p.Tyr222Ter | |
| ENST00000675799.1:c.574C>A (GLA) | ENSP00000502661.1:p.Leu192Met | |
| ENST00000675968.1:n.3320C>A (GLA) | ||
| ENST00000676156.1:c.630C>A (GLA) | ENSP00000501730.1:p.Tyr210Ter | |
| ENST00000676372.1:c.666C>A (GLA) | ENSP00000502805.1:p.Tyr222Ter | |
| ENST00000218516.3:c.666C>A (GLA) | ENSP00000218516.3:p.Tyr222Ter | |
| ENST00000409170.3:c.300+3463G>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3463G>T | |
| ENST00000409338.5:c.177+7098G>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+7098G>T | |
| ENST00000468823.1:n.215C>A (GLA) | ||
| ENST00000480513.5:n.504C>A (GLA) | ||
| ENST00000486121.5:n.711C>A (GLA) | ||
| ENST00000493905.6:c.*54C>A (GLA) | ENSP00000476935.1:n.*54C>A | |
| NM_000169.2:c.666C>A , LRG_672t1:c.666C>A (GLA) | NP_000160.1:p.Tyr222Ter | |
| NM_001199973.1:c.408+3463G>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3463G>T | |
| NM_001199974.1:c.285+7098G>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+7098G>T | |
| XR_938397.1:n.751C>A (GLA) | ||
| XR_938397.2:n.772C>A (GLA) | ||
| NM_001199973.2:c.300+3463G>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3463G>T | |
| NM_001199974.2:c.177+7098G>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+7098G>T | |
| NM_000169.3:c.666C>A (GLA) MANE Select | NP_000160.1:p.Tyr222Ter | |
| NR_164783.1:n.745C>A (GLA) |