Linked Data
ClinVar Variation Id:
450427
dbSNP Id:
rs1555984793
gnomAD v3:
X-101397972-A-T
gnomAD v4:
X-101397972-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397972A>T , CM000685.2:g.101397972A>T | GRCh38 |
| NC_000023.10:g.100652960A>T , CM000685.1:g.100652960A>T | GRCh37 |
| NC_000023.9:g.100539616A>T | NCBI36 |
| NG_007119.1:g.14992T>A , LRG_672:g.14992T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*573T>A (GLA) | ENSP00000501124.2:n.*573T>A | |
| ENST00000674127.2:c.*630T>A (GLA) | ENSP00000501044.2:n.*630T>A | |
| ENST00000710365.1:c.1202T>A (GLA) | ENSP00000518234.1:p.Val401Glu | |
| ENST00000218516.4:c.1127T>A (GLA) MANE Select | ENSP00000218516.4:p.Val376Glu | |
| ENST00000466414.2:n.1263T>A (GLA) | ||
| ENST00000468823.2:n.2549T>A (GLA) | ||
| ENST00000479445.2:n.1741T>A (GLA) | ||
| ENST00000480513.6:c.*435T>A (GLA) | ENSP00000497055.1:n.*435T>A | |
| ENST00000486121.6:c.1172T>A (GLA) | ||
| ENST00000649178.1:c.1250T>A (GLA) | ENSP00000498186.1:p.Val417Glu | |
| ENST00000674127.1:c.1227T>A (GLA) | ENSP00000501044.1:n.1227T>A | |
| ENST00000674142.1:n.1421+10T>A (GLA) | ||
| ENST00000675592.1:c.929T>A (GLA) | ENSP00000502239.1:p.Val310Glu | |
| ENST00000675799.1:c.*652T>A (GLA) | ENSP00000502661.1:n.*652T>A | |
| ENST00000675968.1:n.3998T>A (GLA) | ||
| ENST00000676156.1:c.1091T>A (GLA) | ENSP00000501730.1:p.Val364Glu | |
| ENST00000676372.1:c.1193T>A (GLA) | ENSP00000502805.1:n.1193T>A | |
| ENST00000218516.3:c.1127T>A (GLA) | ENSP00000218516.3:p.Val376Glu | |
| ENST00000409170.3:c.300+2515A>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2515A>T | |
| ENST00000409338.5:c.177+6150A>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6150A>T | |
| ENST00000466414.1:n.453T>A (GLA) | ||
| ENST00000493905.6:c.*515T>A (GLA) | ENSP00000476935.1:n.*515T>A | |
| NM_000169.2:c.1127T>A , LRG_672t1:c.1127T>A (GLA) | NP_000160.1:p.Val376Glu | |
| NM_001199973.1:c.408+2515A>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2515A>T | |
| NM_001199974.1:c.285+6150A>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6150A>T | |
| XR_938397.1:n.1212T>A (GLA) | ||
| XR_938397.2:n.1233T>A (GLA) | ||
| NM_001199973.2:c.300+2515A>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2515A>T | |
| NM_001199974.2:c.177+6150A>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6150A>T | |
| NM_000169.3:c.1127T>A (GLA) MANE Select | NP_000160.1:p.Val376Glu | |
| NR_164783.1:n.1206T>A (GLA) |