Linked Data
ClinVar Variation Id:
515170
dbSNP Id:
rs144060196
ExAC:
X:100652826 T / C
gnomAD v2:
X-100652826-T-C
gnomAD v3:
X-101397838-T-C
gnomAD v4:
X-101397838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397838T>C , CM000685.2:g.101397838T>C | GRCh38 |
| NC_000023.10:g.100652826T>C , CM000685.1:g.100652826T>C | GRCh37 |
| NC_000023.9:g.100539482T>C | NCBI36 |
| NG_007119.1:g.15126A>G , LRG_672:g.15126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*764A>G (GLA) | ENSP00000501044.2:n.*764A>G | |
| ENST00000710365.1:c.1336A>G (GLA) | ENSP00000518234.1:p.Met446Val | |
| ENST00000218516.4:c.1261A>G (GLA) MANE Select | ENSP00000218516.4:p.Met421Val | |
| ENST00000466414.2:n.1397A>G (GLA) | ||
| ENST00000468823.2:n.2683A>G (GLA) | ||
| ENST00000479445.2:n.1875A>G (GLA) | ||
| ENST00000649178.1:c.1384A>G (GLA) | ENSP00000498186.1:p.Met462Val | |
| ENST00000674127.1:c.1361A>G (GLA) | ENSP00000501044.1:n.1361A>G | |
| ENST00000674142.1:n.1421+144A>G (GLA) | ||
| ENST00000675592.1:c.1063A>G (GLA) | ENSP00000502239.1:p.Met355Val | |
| ENST00000675968.1:n.4132A>G (GLA) | ||
| ENST00000676156.1:c.1225A>G (GLA) | ENSP00000501730.1:p.Met409Val | |
| ENST00000676372.1:c.1327A>G (GLA) | ENSP00000502805.1:n.1327A>G | |
| ENST00000218516.3:c.1261A>G (GLA) | ENSP00000218516.3:p.Met421Val | |
| ENST00000409170.3:c.300+2381T>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2381T>C | |
| ENST00000409338.5:c.177+6016T>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6016T>C | |
| ENST00000466414.1:n.587A>G (GLA) | ||
| ENST00000493905.6:c.*649A>G (GLA) | ENSP00000476935.1:n.*649A>G | |
| NM_000169.2:c.1261A>G , LRG_672t1:c.1261A>G (GLA) | NP_000160.1:p.Met421Val | |
| NM_001199973.1:c.408+2381T>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2381T>C | |
| NM_001199974.1:c.285+6016T>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6016T>C | |
| XR_938397.1:n.1346A>G (GLA) | ||
| XR_938397.2:n.1367A>G (GLA) | ||
| NM_001199973.2:c.300+2381T>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2381T>C | |
| NM_001199974.2:c.177+6016T>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6016T>C | |
| NM_000169.3:c.1261A>G (GLA) MANE Select | NP_000160.1:p.Met421Val | |
| NR_164783.1:n.1340A>G (GLA) |