Linked Data
ClinVar Variation Id:
10736
ClinVar RCV Id:
RCV000011483
dbSNP Id:
rs104894839
PubMed:
PMID:8395937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398508C>T , CM000685.2:g.101398508C>T | GRCh38 |
| NC_000023.10:g.100653496C>T , CM000685.1:g.100653496C>T | GRCh37 |
| NC_000023.9:g.100540152C>T | NCBI36 |
| NG_007119.1:g.14456G>A , LRG_672:g.14456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*307G>A (GLA) | ENSP00000501124.2:n.*307G>A | |
| ENST00000674127.2:c.*364G>A (GLA) | ENSP00000501044.2:n.*364G>A | |
| ENST00000710365.1:c.936G>A (GLA) | ENSP00000518234.1:p.Trp312Ter | |
| ENST00000218516.4:c.861G>A (GLA) MANE Select | ENSP00000218516.4:p.Trp287Ter | |
| ENST00000466414.2:n.997G>A (GLA) | ||
| ENST00000468823.2:n.2013G>A (GLA) | ||
| ENST00000479445.2:n.1475G>A (GLA) | ||
| ENST00000480513.6:c.*169G>A (GLA) | ENSP00000497055.1:n.*169G>A | |
| ENST00000486121.6:c.906G>A (GLA) | ||
| ENST00000649178.1:c.984G>A (GLA) | ENSP00000498186.1:p.Trp328Ter | |
| ENST00000674127.1:c.961G>A (GLA) | ENSP00000501044.1:n.961G>A | |
| ENST00000674142.1:n.1165G>A (GLA) | ||
| ENST00000674634.2:c.861G>A (GLA) | ENSP00000502629.2:p.Trp287Ter | |
| ENST00000675592.1:c.801+277G>A (GLA) | ENSP00000502239.1:n.801+277G>A | |
| ENST00000675799.1:c.*386G>A (GLA) | ENSP00000502661.1:n.*386G>A | |
| ENST00000675968.1:n.3732G>A (GLA) | ||
| ENST00000676156.1:c.825G>A (GLA) | ENSP00000501730.1:p.Trp275Ter | |
| ENST00000676372.1:c.927G>A (GLA) | ENSP00000502805.1:n.927G>A | |
| ENST00000218516.3:c.861G>A (GLA) | ENSP00000218516.3:p.Trp287Ter | |
| ENST00000409170.3:c.300+3051C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3051C>T | |
| ENST00000409338.5:c.177+6686C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6686C>T | |
| ENST00000466414.1:n.187G>A (GLA) | ||
| ENST00000493905.6:c.*249G>A (GLA) | ENSP00000476935.1:n.*249G>A | |
| NM_000169.2:c.861G>A , LRG_672t1:c.861G>A (GLA) | NP_000160.1:p.Trp287Ter | |
| NM_001199973.1:c.408+3051C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3051C>T | |
| NM_001199974.1:c.285+6686C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6686C>T | |
| XR_938397.1:n.946G>A (GLA) | ||
| XR_938397.2:n.967G>A (GLA) | ||
| NM_001199973.2:c.300+3051C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3051C>T | |
| NM_001199974.2:c.177+6686C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6686C>T | |
| NM_000169.3:c.861G>A (GLA) MANE Select | NP_000160.1:p.Trp287Ter | |
| NR_164783.1:n.940G>A (GLA) |