Linked Data
ClinVar Variation Id:
10735
dbSNP Id:
rs28935487
gnomAD v3:
X-101398789-T-A
gnomAD v4:
X-101398789-T-A
PubMed:
PMID:7504405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398789T>A , CM000685.2:g.101398789T>A | GRCh38 |
| NC_000023.10:g.100653777T>A , CM000685.1:g.100653777T>A | GRCh37 |
| NC_000023.9:g.100540433T>A | NCBI36 |
| NG_007119.1:g.14175A>T , LRG_672:g.14175A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*243A>T (GLA) | ENSP00000501124.2:n.*243A>T | |
| ENST00000674127.2:c.*300A>T (GLA) | ENSP00000501044.2:n.*300A>T | |
| ENST00000710365.1:c.872A>T (GLA) | ENSP00000518234.1:p.Asp291Val | |
| ENST00000218516.4:c.797A>T (GLA) MANE Select | ENSP00000218516.4:p.Asp266Val | |
| ENST00000466414.2:n.716A>T (GLA) | ||
| ENST00000468823.2:n.1732A>T (GLA) | ||
| ENST00000479445.2:n.1194A>T (GLA) | ||
| ENST00000480513.6:c.*105A>T (GLA) | ENSP00000497055.1:n.*105A>T | |
| ENST00000486121.6:c.842A>T (GLA) | ||
| ENST00000649178.1:c.920A>T (GLA) | ENSP00000498186.1:p.Asp307Val | |
| ENST00000674127.1:c.897A>T (GLA) | ENSP00000501044.1:n.897A>T | |
| ENST00000674142.1:n.884A>T (GLA) | ||
| ENST00000674634.2:c.797A>T (GLA) | ENSP00000502629.2:p.Asp266Val | |
| ENST00000675592.1:c.797A>T (GLA) | ENSP00000502239.1:p.Asp266Val | |
| ENST00000675799.1:c.*105A>T (GLA) | ENSP00000502661.1:n.*105A>T | |
| ENST00000675968.1:n.3451A>T (GLA) | ||
| ENST00000676156.1:c.761A>T (GLA) | ENSP00000501730.1:p.Asp254Val | |
| ENST00000676372.1:c.797A>T (GLA) | ENSP00000502805.1:p.Asp266Val | |
| ENST00000218516.3:c.797A>T (GLA) | ENSP00000218516.3:p.Asp266Val | |
| ENST00000409170.3:c.300+3332T>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3332T>A | |
| ENST00000409338.5:c.177+6967T>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6967T>A | |
| ENST00000468823.1:n.346A>T (GLA) | ||
| ENST00000493905.6:c.*185A>T (GLA) | ENSP00000476935.1:n.*185A>T | |
| NM_000169.2:c.797A>T , LRG_672t1:c.797A>T (GLA) | NP_000160.1:p.Asp266Val | |
| NM_001199973.1:c.408+3332T>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3332T>A | |
| NM_001199974.1:c.285+6967T>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6967T>A | |
| XR_938397.1:n.882A>T (GLA) | ||
| XR_938397.2:n.903A>T (GLA) | ||
| NM_001199973.2:c.300+3332T>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3332T>A | |
| NM_001199974.2:c.177+6967T>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6967T>A | |
| NM_000169.3:c.797A>T (GLA) MANE Select | NP_000160.1:p.Asp266Val | |
| NR_164783.1:n.876A>T (GLA) |