Linked Data
ClinVar Variation Id:
222202
dbSNP Id:
rs782722577
ExAC:
X:100658921 C / T
gnomAD v2:
X-100658921-C-T
gnomAD v3:
X-101403933-C-T
gnomAD v4:
X-101403933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101403933C>T , CM000685.2:g.101403933C>T | GRCh38 |
| NC_000023.10:g.100658921C>T , CM000685.1:g.100658921C>T | GRCh37 |
| NC_000023.9:g.100545577C>T | NCBI36 |
| NG_007119.1:g.9031G>A , LRG_672:g.9031G>A | |
| NG_016327.1:g.731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.247G>A (GLA) | ENSP00000501124.2:p.Asp83Asn | |
| ENST00000674127.2:c.247G>A (GLA) | ENSP00000501044.2:p.Asp83Asn | |
| ENST00000710365.1:c.322G>A (GLA) | ENSP00000518234.1:p.Asp108Asn | |
| ENST00000218516.4:c.247G>A (GLA) MANE Select | ENSP00000218516.4:p.Asp83Asn | |
| ENST00000466414.2:n.166G>A (GLA) | ||
| ENST00000468823.2:n.308G>A (GLA) | ||
| ENST00000479445.2:n.245G>A (GLA) | ||
| ENST00000480513.6:c.247G>A (GLA) | ENSP00000497055.1:p.Asp83Asn | |
| ENST00000486121.6:c.177G>A (GLA) | ||
| ENST00000649178.1:c.370G>A (GLA) | ENSP00000498186.1:p.Asp124Asn | |
| ENST00000674127.1:c.175G>A (GLA) | ENSP00000501044.1:p.Asp59Asn | |
| ENST00000674142.1:n.334G>A (GLA) | ||
| ENST00000674634.2:c.247G>A (GLA) | ENSP00000502629.2:p.Asp83Asn | |
| ENST00000675592.1:c.247G>A (GLA) | ENSP00000502239.1:p.Asp83Asn | |
| ENST00000675799.1:c.247G>A (GLA) | ENSP00000502661.1:p.Asp83Asn | |
| ENST00000675968.1:n.308G>A (GLA) | ||
| ENST00000676156.1:c.247G>A (GLA) | ENSP00000501730.1:p.Asp83Asn | |
| ENST00000676372.1:c.247G>A (GLA) | ENSP00000502805.1:p.Asp83Asn | |
| ENST00000218516.3:c.247G>A (GLA) | ENSP00000218516.3:p.Asp83Asn | |
| ENST00000409170.3:c.301-8003C>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.301-8003C>T | |
| ENST00000409338.5:c.178-8003C>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.178-8003C>T | |
| ENST00000479445.1:n.231G>A (GLA) | ||
| ENST00000480513.5:n.177G>A (GLA) | ||
| ENST00000486121.5:n.177G>A (GLA) | ||
| ENST00000493905.6:c.247G>A (GLA) | ENSP00000476935.1:p.Asp83Asn | |
| NM_000169.2:c.247G>A , LRG_672t1:c.247G>A (GLA) | NP_000160.1:p.Asp83Asn | |
| NM_001199973.1:c.409-8003C>T (RPL36A-HNRNPH2) | NP_001186902.1:n.409-8003C>T | |
| NM_001199974.1:c.286-8003C>T (RPL36A-HNRNPH2) | NP_001186903.1:n.286-8003C>T | |
| XR_938397.1:n.275G>A (GLA) | ||
| XR_938397.2:n.296G>A (GLA) | ||
| NM_001199973.2:c.301-8003C>T (RPL36A-HNRNPH2) | NP_001186902.2:n.301-8003C>T | |
| NM_001199974.2:c.178-8003C>T (RPL36A-HNRNPH2) | NP_001186903.2:n.178-8003C>T | |
| NM_000169.3:c.247G>A (GLA) MANE Select | NP_000160.1:p.Asp83Asn | |
| NR_164783.1:n.269G>A (GLA) |