Linked Data
ClinVar Variation Id:
222643
ClinVar RCV Id:
RCV000208140
dbSNP Id:
rs730880442
PubMed:
PMID:21972175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397870G>A , CM000685.2:g.101397870G>A | GRCh38 |
| NC_000023.10:g.100652858G>A , CM000685.1:g.100652858G>A | GRCh37 |
| NC_000023.9:g.100539514G>A | NCBI36 |
| NG_007119.1:g.15094C>T , LRG_672:g.15094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*732C>T (GLA) | ENSP00000501044.2:n.*732C>T | |
| ENST00000710365.1:c.1304C>T (GLA) | ENSP00000518234.1:p.Thr435Ile | |
| ENST00000218516.4:c.1229C>T (GLA) MANE Select | ENSP00000218516.4:p.Thr410Ile | |
| ENST00000466414.2:n.1365C>T (GLA) | ||
| ENST00000468823.2:n.2651C>T (GLA) | ||
| ENST00000479445.2:n.1843C>T (GLA) | ||
| ENST00000649178.1:c.1352C>T (GLA) | ENSP00000498186.1:p.Thr451Ile | |
| ENST00000674127.1:c.1329C>T (GLA) | ENSP00000501044.1:n.1329C>T | |
| ENST00000674142.1:n.1421+112C>T (GLA) | ||
| ENST00000675592.1:c.1031C>T (GLA) | ENSP00000502239.1:p.Thr344Ile | |
| ENST00000675799.1:c.*754C>T (GLA) | ENSP00000502661.1:n.*754C>T | |
| ENST00000675968.1:n.4100C>T (GLA) | ||
| ENST00000676156.1:c.1193C>T (GLA) | ENSP00000501730.1:p.Thr398Ile | |
| ENST00000676372.1:c.1295C>T (GLA) | ENSP00000502805.1:n.1295C>T | |
| ENST00000218516.3:c.1229C>T (GLA) | ENSP00000218516.3:p.Thr410Ile | |
| ENST00000409170.3:c.300+2413G>A (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2413G>A | |
| ENST00000409338.5:c.177+6048G>A (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6048G>A | |
| ENST00000466414.1:n.555C>T (GLA) | ||
| ENST00000493905.6:c.*617C>T (GLA) | ENSP00000476935.1:n.*617C>T | |
| NM_000169.2:c.1229C>T , LRG_672t1:c.1229C>T (GLA) | NP_000160.1:p.Thr410Ile | |
| NM_001199973.1:c.408+2413G>A (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2413G>A | |
| NM_001199974.1:c.285+6048G>A (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6048G>A | |
| XR_938397.1:n.1314C>T (GLA) | ||
| XR_938397.2:n.1335C>T (GLA) | ||
| NM_001199973.2:c.300+2413G>A (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2413G>A | |
| NM_001199974.2:c.177+6048G>A (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6048G>A | |
| NM_000169.3:c.1229C>T (GLA) MANE Select | NP_000160.1:p.Thr410Ile | |
| NR_164783.1:n.1308C>T (GLA) |