Linked Data
ClinVar Variation Id:
10771
ClinVar RCV Id:
RCV000011518
dbSNP Id:
rs104894852
PubMed:
PMID:12694230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397871T>C , CM000685.2:g.101397871T>C | GRCh38 |
| NC_000023.10:g.100652859T>C , CM000685.1:g.100652859T>C | GRCh37 |
| NC_000023.9:g.100539515T>C | NCBI36 |
| NG_007119.1:g.15093A>G , LRG_672:g.15093A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674127.2:c.*731A>G (GLA) | ENSP00000501044.2:n.*731A>G | |
| ENST00000710365.1:c.1303A>G (GLA) | ENSP00000518234.1:p.Thr435Ala | |
| ENST00000218516.4:c.1228A>G (GLA) MANE Select | ENSP00000218516.4:p.Thr410Ala | |
| ENST00000466414.2:n.1364A>G (GLA) | ||
| ENST00000468823.2:n.2650A>G (GLA) | ||
| ENST00000479445.2:n.1842A>G (GLA) | ||
| ENST00000649178.1:c.1351A>G (GLA) | ENSP00000498186.1:p.Thr451Ala | |
| ENST00000674127.1:c.1328A>G (GLA) | ENSP00000501044.1:n.1328A>G | |
| ENST00000674142.1:n.1421+111A>G (GLA) | ||
| ENST00000675592.1:c.1030A>G (GLA) | ENSP00000502239.1:p.Thr344Ala | |
| ENST00000675799.1:c.*753A>G (GLA) | ENSP00000502661.1:n.*753A>G | |
| ENST00000675968.1:n.4099A>G (GLA) | ||
| ENST00000676156.1:c.1192A>G (GLA) | ENSP00000501730.1:p.Thr398Ala | |
| ENST00000676372.1:c.1294A>G (GLA) | ENSP00000502805.1:n.1294A>G | |
| ENST00000218516.3:c.1228A>G (GLA) | ENSP00000218516.3:p.Thr410Ala | |
| ENST00000409170.3:c.300+2414T>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2414T>C | |
| ENST00000409338.5:c.177+6049T>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6049T>C | |
| ENST00000466414.1:n.554A>G (GLA) | ||
| ENST00000493905.6:c.*616A>G (GLA) | ENSP00000476935.1:n.*616A>G | |
| NM_000169.2:c.1228A>G , LRG_672t1:c.1228A>G (GLA) | NP_000160.1:p.Thr410Ala | |
| NM_001199973.1:c.408+2414T>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2414T>C | |
| NM_001199974.1:c.285+6049T>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6049T>C | |
| XR_938397.1:n.1313A>G (GLA) | ||
| XR_938397.2:n.1334A>G (GLA) | ||
| NM_001199973.2:c.300+2414T>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2414T>C | |
| NM_001199974.2:c.177+6049T>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6049T>C | |
| NM_000169.3:c.1228A>G (GLA) MANE Select | NP_000160.1:p.Thr410Ala | |
| NR_164783.1:n.1307A>G (GLA) |