Linked Data
ClinVar Variation Id:
222434
dbSNP Id:
rs375538532
ExAC:
X:100653489 T / G
gnomAD v2:
X-100653489-T-G
gnomAD v3:
X-101398501-T-G
gnomAD v4:
X-101398501-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398501T>G , CM000685.2:g.101398501T>G | GRCh38 |
| NC_000023.10:g.100653489T>G , CM000685.1:g.100653489T>G | GRCh37 |
| NC_000023.9:g.100540145T>G | NCBI36 |
| NG_007119.1:g.14463A>C , LRG_672:g.14463A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*314A>C (GLA) | ENSP00000501124.2:n.*314A>C | |
| ENST00000674127.2:c.*371A>C (GLA) | ENSP00000501044.2:n.*371A>C | |
| ENST00000710365.1:c.943A>C (GLA) | ENSP00000518234.1:p.Met315Leu | |
| ENST00000218516.4:c.868A>C (GLA) MANE Select | ENSP00000218516.4:p.Met290Leu | |
| ENST00000466414.2:n.1004A>C (GLA) | ||
| ENST00000468823.2:n.2020A>C (GLA) | ||
| ENST00000479445.2:n.1482A>C (GLA) | ||
| ENST00000480513.6:c.*176A>C (GLA) | ENSP00000497055.1:n.*176A>C | |
| ENST00000486121.6:c.913A>C (GLA) | ||
| ENST00000649178.1:c.991A>C (GLA) | ENSP00000498186.1:p.Met331Leu | |
| ENST00000674127.1:c.968A>C (GLA) | ENSP00000501044.1:n.968A>C | |
| ENST00000674142.1:n.1172A>C (GLA) | ||
| ENST00000674634.2:c.868A>C (GLA) | ENSP00000502629.2:p.Met290Leu | |
| ENST00000675592.1:c.801+284A>C (GLA) | ENSP00000502239.1:n.801+284A>C | |
| ENST00000675799.1:c.*393A>C (GLA) | ENSP00000502661.1:n.*393A>C | |
| ENST00000675968.1:n.3739A>C (GLA) | ||
| ENST00000676156.1:c.832A>C (GLA) | ENSP00000501730.1:p.Met278Leu | |
| ENST00000676372.1:c.934A>C (GLA) | ENSP00000502805.1:n.934A>C | |
| ENST00000218516.3:c.868A>C (GLA) | ENSP00000218516.3:p.Met290Leu | |
| ENST00000409170.3:c.300+3044T>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3044T>G | |
| ENST00000409338.5:c.177+6679T>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6679T>G | |
| ENST00000466414.1:n.194A>C (GLA) | ||
| ENST00000493905.6:c.*256A>C (GLA) | ENSP00000476935.1:n.*256A>C | |
| NM_000169.2:c.868A>C , LRG_672t1:c.868A>C (GLA) | NP_000160.1:p.Met290Leu | |
| NM_001199973.1:c.408+3044T>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3044T>G | |
| NM_001199974.1:c.285+6679T>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6679T>G | |
| XR_938397.1:n.953A>C (GLA) | ||
| XR_938397.2:n.974A>C (GLA) | ||
| NM_001199973.2:c.300+3044T>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3044T>G | |
| NM_001199974.2:c.177+6679T>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6679T>G | |
| NM_000169.3:c.868A>C (GLA) MANE Select | NP_000160.1:p.Met290Leu | |
| NR_164783.1:n.947A>C (GLA) |