Linked Data
ClinVar Variation Id:
10739
ClinVar RCV Id:
RCV000011487
dbSNP Id:
rs28935491
gnomAD v4:
X-101398390-G-T
PubMed:
PMID:8395937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398390G>T , CM000685.2:g.101398390G>T | GRCh38 |
| NC_000023.10:g.100653378G>T , CM000685.1:g.100653378G>T | GRCh37 |
| NC_000023.9:g.100540034G>T | NCBI36 |
| NG_007119.1:g.14574C>A , LRG_672:g.14574C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*425C>A (GLA) | ENSP00000501124.2:n.*425C>A | |
| ENST00000674127.2:c.*482C>A (GLA) | ENSP00000501044.2:n.*482C>A | |
| ENST00000710365.1:c.1054C>A (GLA) | ENSP00000518234.1:p.Gln352Lys | |
| ENST00000218516.4:c.979C>A (GLA) MANE Select | ENSP00000218516.4:p.Gln327Lys | |
| ENST00000466414.2:n.1115C>A (GLA) | ||
| ENST00000468823.2:n.2131C>A (GLA) | ||
| ENST00000479445.2:n.1593C>A (GLA) | ||
| ENST00000480513.6:c.*287C>A (GLA) | ENSP00000497055.1:n.*287C>A | |
| ENST00000486121.6:c.1024C>A (GLA) | ||
| ENST00000649178.1:c.1102C>A (GLA) | ENSP00000498186.1:p.Gln368Lys | |
| ENST00000674127.1:c.1079C>A (GLA) | ENSP00000501044.1:n.1079C>A | |
| ENST00000674142.1:n.1283C>A (GLA) | ||
| ENST00000674634.2:c.979C>A (GLA) | ENSP00000502629.2:p.Gln327Lys | |
| ENST00000675592.1:c.802-291C>A (GLA) | ENSP00000502239.1:n.802-291C>A | |
| ENST00000675799.1:c.*504C>A (GLA) | ENSP00000502661.1:n.*504C>A | |
| ENST00000675968.1:n.3850C>A (GLA) | ||
| ENST00000676156.1:c.943C>A (GLA) | ENSP00000501730.1:p.Gln315Lys | |
| ENST00000676372.1:c.1045C>A (GLA) | ENSP00000502805.1:n.1045C>A | |
| ENST00000218516.3:c.979C>A (GLA) | ENSP00000218516.3:p.Gln327Lys | |
| ENST00000409170.3:c.300+2933G>T (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2933G>T | |
| ENST00000409338.5:c.177+6568G>T (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6568G>T | |
| ENST00000466414.1:n.305C>A (GLA) | ||
| ENST00000493905.6:c.*367C>A (GLA) | ENSP00000476935.1:n.*367C>A | |
| NM_000169.2:c.979C>A , LRG_672t1:c.979C>A (GLA) | NP_000160.1:p.Gln327Lys | |
| NM_001199973.1:c.408+2933G>T (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2933G>T | |
| NM_001199974.1:c.285+6568G>T (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6568G>T | |
| XR_938397.1:n.1064C>A (GLA) | ||
| XR_938397.2:n.1085C>A (GLA) | ||
| NM_001199973.2:c.300+2933G>T (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2933G>T | |
| NM_001199974.2:c.177+6568G>T (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6568G>T | |
| NM_000169.3:c.979C>A (GLA) MANE Select | NP_000160.1:p.Gln327Lys | |
| NR_164783.1:n.1058C>A (GLA) |