Linked Data
ClinVar Variation Id:
379288
dbSNP Id:
rs144994244
ExAC:
X:100652985 C / G
gnomAD v2:
X-100652985-C-G
gnomAD v3:
X-101397997-C-G
gnomAD v4:
X-101397997-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397997C>G , CM000685.2:g.101397997C>G | GRCh38 |
| NC_000023.10:g.100652985C>G , CM000685.1:g.100652985C>G | GRCh37 |
| NC_000023.9:g.100539641C>G | NCBI36 |
| NG_007119.1:g.14967G>C , LRG_672:g.14967G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*548G>C (GLA) | ENSP00000501124.2:n.*548G>C | |
| ENST00000674127.2:c.*605G>C (GLA) | ENSP00000501044.2:n.*605G>C | |
| ENST00000710365.1:c.1177G>C (GLA) | ENSP00000518234.1:p.Ala393Pro | |
| ENST00000218516.4:c.1102G>C (GLA) MANE Select | ENSP00000218516.4:p.Ala368Pro | |
| ENST00000466414.2:n.1238G>C (GLA) | ||
| ENST00000468823.2:n.2524G>C (GLA) | ||
| ENST00000479445.2:n.1716G>C (GLA) | ||
| ENST00000480513.6:c.*410G>C (GLA) | ENSP00000497055.1:n.*410G>C | |
| ENST00000486121.6:c.1147G>C (GLA) | ||
| ENST00000649178.1:c.1225G>C (GLA) | ENSP00000498186.1:p.Ala409Pro | |
| ENST00000674127.1:c.1202G>C (GLA) | ENSP00000501044.1:n.1202G>C | |
| ENST00000674142.1:n.1406G>C (GLA) | ||
| ENST00000675592.1:c.904G>C (GLA) | ENSP00000502239.1:p.Ala302Pro | |
| ENST00000675799.1:c.*627G>C (GLA) | ENSP00000502661.1:n.*627G>C | |
| ENST00000675968.1:n.3973G>C (GLA) | ||
| ENST00000676156.1:c.1066G>C (GLA) | ENSP00000501730.1:p.Ala356Pro | |
| ENST00000676372.1:c.1168G>C (GLA) | ENSP00000502805.1:n.1168G>C | |
| ENST00000218516.3:c.1102G>C (GLA) | ENSP00000218516.3:p.Ala368Pro | |
| ENST00000409170.3:c.300+2540C>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2540C>G | |
| ENST00000409338.5:c.177+6175C>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6175C>G | |
| ENST00000466414.1:n.428G>C (GLA) | ||
| ENST00000493905.6:c.*490G>C (GLA) | ENSP00000476935.1:n.*490G>C | |
| NM_000169.2:c.1102G>C , LRG_672t1:c.1102G>C (GLA) | NP_000160.1:p.Ala368Pro | |
| NM_001199973.1:c.408+2540C>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2540C>G | |
| NM_001199974.1:c.285+6175C>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6175C>G | |
| XR_938397.1:n.1187G>C (GLA) | ||
| XR_938397.2:n.1208G>C (GLA) | ||
| NM_001199973.2:c.300+2540C>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2540C>G | |
| NM_001199974.2:c.177+6175C>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6175C>G | |
| NM_000169.3:c.1102G>C (GLA) MANE Select | NP_000160.1:p.Ala368Pro | |
| NR_164783.1:n.1181G>C (GLA) |