Linked Data
ClinVar Variation Id:
42457
dbSNP Id:
rs200096940
ExAC:
X:100655648 T / G
gnomAD v2:
X-100655648-T-G
gnomAD v3:
X-101400660-T-G
gnomAD v4:
X-101400660-T-G
PubMed:
PMID:22805550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101400660T>G , CM000685.2:g.101400660T>G | GRCh38 |
| NC_000023.10:g.100655648T>G , CM000685.1:g.100655648T>G | GRCh37 |
| NC_000023.9:g.100542304T>G | NCBI36 |
| NG_007119.1:g.12304A>C , LRG_672:g.12304A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486121.7:c.*85+6A>C (GLA) | ENSP00000501124.2:n.*85+6A>C | |
| ENST00000674127.2:c.*85+6A>C (GLA) | ENSP00000501044.2:n.*85+6A>C | |
| ENST00000710365.1:c.714+6A>C (GLA) | ENSP00000518234.1:n.714+6A>C | |
| ENST00000218516.4:c.639+6A>C (GLA) MANE Select | ENSP00000218516.4:n.639+6A>C | |
| ENST00000466414.2:n.558+6A>C (GLA) | ||
| ENST00000468823.2:n.1574+6A>C (GLA) | ||
| ENST00000479445.2:n.1036+6A>C (GLA) | ||
| ENST00000480513.6:c.547+972A>C (GLA) | ENSP00000497055.1:n.547+972A>C | |
| ENST00000486121.6:c.684+6A>C (GLA) | ||
| ENST00000649178.1:c.762+6A>C (GLA) | ENSP00000498186.1:n.762+6A>C | |
| ENST00000674127.1:c.682+6A>C (GLA) | ENSP00000501044.1:n.682+6A>C | |
| ENST00000674142.1:n.726+6A>C (GLA) | ||
| ENST00000674634.2:c.639+6A>C (GLA) | ENSP00000502629.2:n.639+6A>C | |
| ENST00000675592.1:c.639+6A>C (GLA) | ENSP00000502239.1:n.639+6A>C | |
| ENST00000675799.1:c.547+972A>C (GLA) | ENSP00000502661.1:n.547+972A>C | |
| ENST00000675968.1:n.1580A>C (GLA) | ||
| ENST00000676156.1:c.603+6A>C (GLA) | ENSP00000501730.1:n.603+6A>C | |
| ENST00000676372.1:c.639+6A>C (GLA) | ENSP00000502805.1:n.639+6A>C | |
| ENST00000218516.3:c.639+6A>C (GLA) | ENSP00000218516.3:n.639+6A>C | |
| ENST00000409170.3:c.300+5203T>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+5203T>G | |
| ENST00000409338.5:c.177+8838T>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+8838T>G | |
| ENST00000468823.1:n.188+6A>C (GLA) | ||
| ENST00000480513.5:n.477+972A>C (GLA) | ||
| ENST00000486121.5:n.684+6A>C (GLA) | ||
| ENST00000493905.6:c.639+6A>C (GLA) | ENSP00000476935.1:n.639+6A>C | |
| NM_000169.2:c.639+6A>C , LRG_672t1:c.639+6A>C (GLA) | NP_000160.1:n.639+6A>C | |
| NM_001199973.1:c.408+5203T>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+5203T>G | |
| NM_001199974.1:c.285+8838T>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+8838T>G | |
| XR_938397.1:n.667+6A>C (GLA) | ||
| XR_938397.2:n.688+6A>C (GLA) | ||
| NM_001199973.2:c.300+5203T>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+5203T>G | |
| NM_001199974.2:c.177+8838T>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+8838T>G | |
| NM_000169.3:c.639+6A>C (GLA) MANE Select | NP_000160.1:n.639+6A>C | |
| NR_164783.1:n.661+6A>C (GLA) |