Linked Data
ClinVar Variation Id:
1518534
ClinVar RCV Id:
RCV002043496
dbSNP Id:
rs730880437
gnomAD v4:
X-101398378-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398378G>T , CM000685.2:g.101398378G>T | GRCh38 |
| NC_000023.10:g.100653366G>T , CM000685.1:g.100653366G>T | GRCh37 |
| NC_000023.9:g.100540022G>T | NCBI36 |
| NG_007119.1:g.14586C>A , LRG_672:g.14586C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*437C>A (GLA) | ENSP00000501124.2:n.*437C>A | |
| ENST00000674127.2:c.*494C>A (GLA) | ENSP00000501044.2:n.*494C>A | |
| ENST00000710365.1:c.1066C>A (GLA) | ENSP00000518234.1:p.Leu356Ile | |
| ENST00000218516.4:c.991C>A (GLA) MANE Select | ENSP00000218516.4:p.Leu331Ile | |
| ENST00000466414.2:n.1127C>A (GLA) | ||
| ENST00000468823.2:n.2143C>A (GLA) | ||
| ENST00000479445.2:n.1605C>A (GLA) | ||
| ENST00000480513.6:c.*299C>A (GLA) | ENSP00000497055.1:n.*299C>A | |
| ENST00000486121.6:c.1036C>A (GLA) | ||
| ENST00000649178.1:c.1114C>A (GLA) | ENSP00000498186.1:p.Leu372Ile | |
| ENST00000674127.1:c.1091C>A (GLA) | ENSP00000501044.1:n.1091C>A | |
| ENST00000674142.1:n.1295C>A (GLA) | ||
| ENST00000674634.2:c.991C>A (GLA) | ENSP00000502629.2:p.Leu331Ile | |
| ENST00000675592.1:c.802-279C>A (GLA) | ENSP00000502239.1:n.802-279C>A | |
| ENST00000675799.1:c.*516C>A (GLA) | ENSP00000502661.1:n.*516C>A | |
| ENST00000675968.1:n.3862C>A (GLA) | ||
| ENST00000676156.1:c.955C>A (GLA) | ENSP00000501730.1:p.Leu319Ile | |
| ENST00000676372.1:c.1057C>A (GLA) | ENSP00000502805.1:n.1057C>A | |
| ENST00000218516.3:c.991C>A (GLA) | ENSP00000218516.3:p.Leu331Ile | |
| ENST00000409170.3:c.300+2921G>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2921G>T | |
| ENST00000409338.5:c.177+6556G>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6556G>T | |
| ENST00000466414.1:n.317C>A (GLA) | ||
| ENST00000493905.6:c.*379C>A (GLA) | ENSP00000476935.1:n.*379C>A | |
| NM_000169.2:c.991C>A , LRG_672t1:c.991C>A (GLA) | NP_000160.1:p.Leu331Ile | |
| NM_001199973.1:c.408+2921G>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2921G>T | |
| NM_001199974.1:c.285+6556G>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6556G>T | |
| XR_938397.1:n.1076C>A (GLA) | ||
| XR_938397.2:n.1097C>A (GLA) | ||
| NM_001199973.2:c.300+2921G>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2921G>T | |
| NM_001199974.2:c.177+6556G>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6556G>T | |
| NM_000169.3:c.991C>A (GLA) MANE Select | NP_000160.1:p.Leu331Ile | |
| NR_164783.1:n.1070C>A (GLA) |