Linked Data
ClinVar Variation Id:
217410
dbSNP Id:
rs869312162
gnomAD v2:
X-100653032-G-C
gnomAD v4:
X-101398044-G-C
PubMed:
PMID:26415523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398044G>C , CM000685.2:g.101398044G>C | GRCh38 |
| NC_000023.10:g.100653032G>C , CM000685.1:g.100653032G>C | GRCh37 |
| NC_000023.9:g.100539688G>C | NCBI36 |
| NG_007119.1:g.14920C>G , LRG_672:g.14920C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*501C>G (GLA) | ENSP00000501124.2:n.*501C>G | |
| ENST00000674127.2:c.*558C>G (GLA) | ENSP00000501044.2:n.*558C>G | |
| ENST00000710365.1:c.1130C>G (GLA) | ENSP00000518234.1:p.Ala377Gly | |
| ENST00000218516.4:c.1055C>G (GLA) MANE Select | ENSP00000218516.4:p.Ala352Gly | |
| ENST00000466414.2:n.1191C>G (GLA) | ||
| ENST00000468823.2:n.2477C>G (GLA) | ||
| ENST00000479445.2:n.1669C>G (GLA) | ||
| ENST00000480513.6:c.*363C>G (GLA) | ENSP00000497055.1:n.*363C>G | |
| ENST00000486121.6:c.1100C>G (GLA) | ||
| ENST00000649178.1:c.1178C>G (GLA) | ENSP00000498186.1:p.Ala393Gly | |
| ENST00000674127.1:c.1155C>G (GLA) | ENSP00000501044.1:n.1155C>G | |
| ENST00000674142.1:n.1359C>G (GLA) | ||
| ENST00000675592.1:c.857C>G (GLA) | ENSP00000502239.1:p.Ala286Gly | |
| ENST00000675799.1:c.*580C>G (GLA) | ENSP00000502661.1:n.*580C>G | |
| ENST00000675968.1:n.3926C>G (GLA) | ||
| ENST00000676156.1:c.1019C>G (GLA) | ENSP00000501730.1:p.Ala340Gly | |
| ENST00000676372.1:c.1121C>G (GLA) | ENSP00000502805.1:n.1121C>G | |
| ENST00000218516.3:c.1055C>G (GLA) | ENSP00000218516.3:p.Ala352Gly | |
| ENST00000409170.3:c.300+2587G>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2587G>C | |
| ENST00000409338.5:c.177+6222G>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6222G>C | |
| ENST00000466414.1:n.381C>G (GLA) | ||
| ENST00000493905.6:c.*443C>G (GLA) | ENSP00000476935.1:n.*443C>G | |
| NM_000169.2:c.1055C>G , LRG_672t1:c.1055C>G (GLA) | NP_000160.1:p.Ala352Gly | |
| NM_001199973.1:c.408+2587G>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2587G>C | |
| NM_001199974.1:c.285+6222G>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6222G>C | |
| XR_938397.1:n.1140C>G (GLA) | ||
| XR_938397.2:n.1161C>G (GLA) | ||
| NM_001199973.2:c.300+2587G>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2587G>C | |
| NM_001199974.2:c.177+6222G>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6222G>C | |
| NM_000169.3:c.1055C>G (GLA) MANE Select | NP_000160.1:p.Ala352Gly | |
| NR_164783.1:n.1134C>G (GLA) |