Linked Data
ClinVar Variation Id:
1000882
ClinVar RCV Id:
RCV001297078
dbSNP Id:
rs1928328478
gnomAD v3:
X-101401799-T-G
gnomAD v4:
X-101401799-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101401799T>G , CM000685.2:g.101401799T>G | GRCh38 |
| NC_000023.10:g.100656787T>G , CM000685.1:g.100656787T>G | GRCh37 |
| NC_000023.9:g.100543443T>G | NCBI36 |
| NG_007119.1:g.11165A>C , LRG_672:g.11165A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.380A>C (GLA) | ENSP00000501124.2:p.Lys127Thr | |
| ENST00000674127.2:c.380A>C (GLA) | ENSP00000501044.2:p.Lys127Thr | |
| ENST00000710365.1:c.455A>C (GLA) | ENSP00000518234.1:p.Lys152Thr | |
| ENST00000218516.4:c.380A>C (GLA) MANE Select | ENSP00000218516.4:p.Lys127Thr | |
| ENST00000466414.2:n.299A>C (GLA) | ||
| ENST00000468823.2:n.441A>C (GLA) | ||
| ENST00000479445.2:n.378A>C (GLA) | ||
| ENST00000480513.6:c.380A>C (GLA) | ENSP00000497055.1:p.Lys127Thr | |
| ENST00000486121.6:c.310A>C (GLA) | ||
| ENST00000649178.1:c.503A>C (GLA) | ENSP00000498186.1:p.Lys168Thr | |
| ENST00000674127.1:c.308A>C (GLA) | ENSP00000501044.1:p.Lys103Thr | |
| ENST00000674142.1:n.467A>C (GLA) | ||
| ENST00000674634.2:c.380A>C (GLA) | ENSP00000502629.2:p.Lys127Thr | |
| ENST00000675592.1:c.380A>C (GLA) | ENSP00000502239.1:p.Lys127Thr | |
| ENST00000675799.1:c.380A>C (GLA) | ENSP00000502661.1:p.Lys127Thr | |
| ENST00000675968.1:n.441A>C (GLA) | ||
| ENST00000676156.1:c.380A>C (GLA) | ENSP00000501730.1:p.Lys127Thr | |
| ENST00000676372.1:c.380A>C (GLA) | ENSP00000502805.1:p.Lys127Thr | |
| ENST00000218516.3:c.380A>C (GLA) | ENSP00000218516.3:p.Lys127Thr | |
| ENST00000409170.3:c.300+6342T>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+6342T>G | |
| ENST00000409338.5:c.177+9977T>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+9977T>G | |
| ENST00000479445.1:n.364A>C (GLA) | ||
| ENST00000480513.5:n.310A>C (GLA) | ||
| ENST00000486121.5:n.310A>C (GLA) | ||
| ENST00000493905.6:c.380A>C (GLA) | ENSP00000476935.1:p.Lys127Thr | |
| NM_000169.2:c.380A>C , LRG_672t1:c.380A>C (GLA) | NP_000160.1:p.Lys127Thr | |
| NM_001199973.1:c.408+6342T>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+6342T>G | |
| NM_001199974.1:c.285+9977T>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+9977T>G | |
| XR_938397.1:n.408A>C (GLA) | ||
| XR_938397.2:n.429A>C (GLA) | ||
| NM_001199973.2:c.300+6342T>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+6342T>G | |
| NM_001199974.2:c.177+9977T>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+9977T>G | |
| NM_000169.3:c.380A>C (GLA) MANE Select | NP_000160.1:p.Lys127Thr | |
| NR_164783.1:n.402A>C (GLA) |