Linked Data
ClinVar Variation Id:
10774
ClinVar RCV Id:
RCV000011521
dbSNP Id:
rs28935495
PubMed:
PMID:15162124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398554T>C , CM000685.2:g.101398554T>C | GRCh38 |
| NC_000023.10:g.100653542T>C , CM000685.1:g.100653542T>C | GRCh37 |
| NC_000023.9:g.100540198T>C | NCBI36 |
| NG_007119.1:g.14410A>G , LRG_672:g.14410A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*261A>G (GLA) | ENSP00000501124.2:n.*261A>G | |
| ENST00000674127.2:c.*318A>G (GLA) | ENSP00000501044.2:n.*318A>G | |
| ENST00000710365.1:c.890A>G (GLA) | ENSP00000518234.1:p.Asn297Ser | |
| ENST00000218516.4:c.815A>G (GLA) MANE Select | ENSP00000218516.4:p.Asn272Ser | |
| ENST00000466414.2:n.951A>G (GLA) | ||
| ENST00000468823.2:n.1967A>G (GLA) | ||
| ENST00000479445.2:n.1429A>G (GLA) | ||
| ENST00000480513.6:c.*123A>G (GLA) | ENSP00000497055.1:n.*123A>G | |
| ENST00000486121.6:c.860A>G (GLA) | ||
| ENST00000649178.1:c.938A>G (GLA) | ENSP00000498186.1:p.Asn313Ser | |
| ENST00000674127.1:c.915A>G (GLA) | ENSP00000501044.1:n.915A>G | |
| ENST00000674142.1:n.1119A>G (GLA) | ||
| ENST00000674634.2:c.815A>G (GLA) | ENSP00000502629.2:p.Asn272Ser | |
| ENST00000675592.1:c.801+231A>G (GLA) | ENSP00000502239.1:n.801+231A>G | |
| ENST00000675799.1:c.*340A>G (GLA) | ENSP00000502661.1:n.*340A>G | |
| ENST00000675968.1:n.3686A>G (GLA) | ||
| ENST00000676156.1:c.779A>G (GLA) | ENSP00000501730.1:p.Asn260Ser | |
| ENST00000676372.1:c.881A>G (GLA) | ENSP00000502805.1:n.881A>G | |
| ENST00000218516.3:c.815A>G (GLA) | ENSP00000218516.3:p.Asn272Ser | |
| ENST00000409170.3:c.300+3097T>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3097T>C | |
| ENST00000409338.5:c.177+6732T>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6732T>C | |
| ENST00000466414.1:n.141A>G (GLA) | ||
| ENST00000468823.1:n.581A>G (GLA) | ||
| ENST00000493905.6:c.*203A>G (GLA) | ENSP00000476935.1:n.*203A>G | |
| NM_000169.2:c.815A>G , LRG_672t1:c.815A>G (GLA) | NP_000160.1:p.Asn272Ser | |
| NM_001199973.1:c.408+3097T>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3097T>C | |
| NM_001199974.1:c.285+6732T>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6732T>C | |
| XR_938397.1:n.900A>G (GLA) | ||
| XR_938397.2:n.921A>G (GLA) | ||
| NM_001199973.2:c.300+3097T>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3097T>C | |
| NM_001199974.2:c.177+6732T>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6732T>C | |
| NM_000169.3:c.815A>G (GLA) MANE Select | NP_000160.1:p.Asn272Ser | |
| NR_164783.1:n.894A>G (GLA) |