Linked Data
ClinVar Variation Id:
495696
ClinVar RCV Id:
RCV000587754
dbSNP Id:
rs797044499
gnomAD v3:
X-101398569-T-A
gnomAD v4:
X-101398569-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398569T>A , CM000685.2:g.101398569T>A | GRCh38 |
| NC_000023.10:g.100653557T>A , CM000685.1:g.100653557T>A | GRCh37 |
| NC_000023.9:g.100540213T>A | NCBI36 |
| NG_007119.1:g.14395A>T , LRG_672:g.14395A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*248-2A>T (GLA) | ENSP00000501124.2:n.*248-2A>T | |
| ENST00000674127.2:c.*305-2A>T (GLA) | ENSP00000501044.2:n.*305-2A>T | |
| ENST00000710365.1:c.877-2A>T (GLA) | ENSP00000518234.1:n.877-2A>T | |
| ENST00000218516.4:c.802-2A>T (GLA) MANE Select | ENSP00000218516.4:n.802-2A>T | |
| ENST00000466414.2:n.936A>T (GLA) | ||
| ENST00000468823.2:n.1952A>T (GLA) | ||
| ENST00000479445.2:n.1414A>T (GLA) | ||
| ENST00000480513.6:c.*110-2A>T (GLA) | ENSP00000497055.1:n.*110-2A>T | |
| ENST00000486121.6:c.847-2A>T (GLA) | ||
| ENST00000649178.1:c.925-2A>T (GLA) | ENSP00000498186.1:n.925-2A>T | |
| ENST00000674127.1:c.902-2A>T (GLA) | ENSP00000501044.1:n.902-2A>T | |
| ENST00000674142.1:n.1104A>T (GLA) | ||
| ENST00000674634.2:c.802-2A>T (GLA) | ENSP00000502629.2:n.802-2A>T | |
| ENST00000675592.1:c.801+216A>T (GLA) | ENSP00000502239.1:n.801+216A>T | |
| ENST00000675799.1:c.*325A>T (GLA) | ENSP00000502661.1:n.*325A>T | |
| ENST00000675968.1:n.3671A>T (GLA) | ||
| ENST00000676156.1:c.766-2A>T (GLA) | ENSP00000501730.1:n.766-2A>T | |
| ENST00000676372.1:c.868-2A>T (GLA) | ENSP00000502805.1:n.868-2A>T | |
| ENST00000218516.3:c.802-2A>T (GLA) | ENSP00000218516.3:n.802-2A>T | |
| ENST00000409170.3:c.300+3112T>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3112T>A | |
| ENST00000409338.5:c.177+6747T>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6747T>A | |
| ENST00000466414.1:n.126A>T (GLA) | ||
| ENST00000468823.1:n.566A>T (GLA) | ||
| ENST00000493905.6:c.*190-2A>T (GLA) | ENSP00000476935.1:n.*190-2A>T | |
| NM_000169.2:c.802-2A>T , LRG_672t1:c.802-2A>T (GLA) | NP_000160.1:n.802-2A>T | |
| NM_001199973.1:c.408+3112T>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3112T>A | |
| NM_001199974.1:c.285+6747T>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6747T>A | |
| XR_938397.1:n.887-2A>T (GLA) | ||
| XR_938397.2:n.908-2A>T (GLA) | ||
| NM_001199973.2:c.300+3112T>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3112T>A | |
| NM_001199974.2:c.177+6747T>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6747T>A | |
| NM_000169.3:c.802-2A>T (GLA) MANE Select | NP_000160.1:n.802-2A>T | |
| NR_164783.1:n.881-2A>T (GLA) |