Linked Data
ClinVar Variation Id:
10746
ClinVar RCV Id:
RCV000011485
dbSNP Id:
rs387906483
gnomAD v4:
X-101403809-A-C
PubMed:
PMID:7504405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101403809A>C , CM000685.2:g.101403809A>C | GRCh38 |
| NC_000023.10:g.100658797A>C , CM000685.1:g.100658797A>C | GRCh37 |
| NC_000023.9:g.100545453A>C | NCBI36 |
| NG_007119.1:g.9155T>G , LRG_672:g.9155T>G | |
| NG_016327.1:g.607A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.369+2T>G (GLA) | ENSP00000501124.2:n.369+2T>G | |
| ENST00000674127.2:c.369+2T>G (GLA) | ENSP00000501044.2:n.369+2T>G | |
| ENST00000710365.1:c.444+2T>G (GLA) | ENSP00000518234.1:n.444+2T>G | |
| ENST00000218516.4:c.369+2T>G (GLA) MANE Select | ENSP00000218516.4:n.369+2T>G | |
| ENST00000466414.2:n.288+2T>G (GLA) | ||
| ENST00000468823.2:n.430+2T>G (GLA) | ||
| ENST00000479445.2:n.367+2T>G (GLA) | ||
| ENST00000480513.6:c.369+2T>G (GLA) | ENSP00000497055.1:n.369+2T>G | |
| ENST00000486121.6:c.299+2T>G (GLA) | ||
| ENST00000649178.1:c.492+2T>G (GLA) | ENSP00000498186.1:n.492+2T>G | |
| ENST00000674127.1:c.297+2T>G (GLA) | ENSP00000501044.1:n.297+2T>G | |
| ENST00000674142.1:n.456+2T>G (GLA) | ||
| ENST00000674634.2:c.369+2T>G (GLA) | ENSP00000502629.2:n.369+2T>G | |
| ENST00000675592.1:c.369+2T>G (GLA) | ENSP00000502239.1:n.369+2T>G | |
| ENST00000675799.1:c.369+2T>G (GLA) | ENSP00000502661.1:n.369+2T>G | |
| ENST00000675968.1:n.430+2T>G (GLA) | ||
| ENST00000676156.1:c.369+2T>G (GLA) | ENSP00000501730.1:n.369+2T>G | |
| ENST00000676372.1:c.369+2T>G (GLA) | ENSP00000502805.1:n.369+2T>G | |
| ENST00000218516.3:c.369+2T>G (GLA) | ENSP00000218516.3:n.369+2T>G | |
| ENST00000409170.3:c.301-8127A>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.301-8127A>C | |
| ENST00000409338.5:c.178-8127A>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.178-8127A>C | |
| ENST00000479445.1:n.353+2T>G (GLA) | ||
| ENST00000480513.5:n.299+2T>G (GLA) | ||
| ENST00000486121.5:n.299+2T>G (GLA) | ||
| ENST00000493905.6:c.369+2T>G (GLA) | ENSP00000476935.1:n.369+2T>G | |
| NM_000169.2:c.369+2T>G , LRG_672t1:c.369+2T>G (GLA) | NP_000160.1:n.369+2T>G | |
| NM_001199973.1:c.409-8127A>C (RPL36A-HNRNPH2) | NP_001186902.1:n.409-8127A>C | |
| NM_001199974.1:c.286-8127A>C (RPL36A-HNRNPH2) | NP_001186903.1:n.286-8127A>C | |
| XR_938397.1:n.397+2T>G (GLA) | ||
| XR_938397.2:n.418+2T>G (GLA) | ||
| NM_001199973.2:c.301-8127A>C (RPL36A-HNRNPH2) | NP_001186902.2:n.301-8127A>C | |
| NM_001199974.2:c.178-8127A>C (RPL36A-HNRNPH2) | NP_001186903.2:n.178-8127A>C | |
| NM_000169.3:c.369+2T>G (GLA) MANE Select | NP_000160.1:n.369+2T>G | |
| NR_164783.1:n.391+2T>G (GLA) |