Linked Data
ClinVar Variation Id:
193056
dbSNP Id:
rs797044613
gnomAD v3:
X-101407780-T-G
gnomAD v4:
X-101407780-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101407780T>G , CM000685.2:g.101407780T>G | GRCh38 |
| NC_000023.10:g.100662768T>G , CM000685.1:g.100662768T>G | GRCh37 |
| NC_000023.9:g.100549424T>G | NCBI36 |
| NG_007119.1:g.5184A>C , LRG_672:g.5184A>C | |
| NG_016327.1:g.4578T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.124A>C (GLA) | ENSP00000501124.2:p.Met42Leu | |
| ENST00000674127.2:c.124A>C (GLA) | ENSP00000501044.2:p.Met42Leu | |
| ENST00000710365.1:c.124A>C (GLA) | ENSP00000518234.1:p.Met42Leu | |
| ENST00000218516.4:c.124A>C (GLA) MANE Select | ENSP00000218516.4:p.Met42Leu | |
| ENST00000466414.2:n.43A>C (GLA) | ||
| ENST00000468823.2:n.185A>C (GLA) | ||
| ENST00000479445.2:n.122A>C (GLA) | ||
| ENST00000480513.6:c.124A>C (GLA) | ENSP00000497055.1:p.Met42Leu | |
| ENST00000486121.6:c.54A>C (GLA) | ||
| ENST00000649178.1:c.124A>C (GLA) | ENSP00000498186.1:p.Met42Leu | |
| ENST00000674127.1:c.52A>C (GLA) | ENSP00000501044.1:p.Met18Leu | |
| ENST00000674142.1:n.211A>C (GLA) | ||
| ENST00000674634.2:c.124A>C (GLA) | ENSP00000502629.2:p.Met42Leu | |
| ENST00000675592.1:c.124A>C (GLA) | ENSP00000502239.1:p.Met42Leu | |
| ENST00000675799.1:c.124A>C (GLA) | ENSP00000502661.1:p.Met42Leu | |
| ENST00000675968.1:n.185A>C (GLA) | ||
| ENST00000676156.1:c.124A>C (GLA) | ENSP00000501730.1:p.Met42Leu | |
| ENST00000676372.1:c.124A>C (GLA) | ENSP00000502805.1:p.Met42Leu | |
| ENST00000218516.3:c.124A>C (GLA) | ENSP00000218516.3:p.Met42Leu | |
| ENST00000409170.3:c.301-4156T>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.301-4156T>G | |
| ENST00000409338.5:c.178-4156T>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.178-4156T>G | |
| ENST00000479445.1:n.108A>C (GLA) | ||
| ENST00000480513.5:n.54A>C (GLA) | ||
| ENST00000486121.5:n.54A>C (GLA) | ||
| ENST00000493905.6:c.124A>C (GLA) | ENSP00000476935.1:p.Met42Leu | |
| NM_000169.2:c.124A>C , LRG_672t1:c.124A>C (GLA) | NP_000160.1:p.Met42Leu | |
| NM_001199973.1:c.409-4156T>G (RPL36A-HNRNPH2) | NP_001186902.1:n.409-4156T>G | |
| NM_001199974.1:c.286-4156T>G (RPL36A-HNRNPH2) | NP_001186903.1:n.286-4156T>G | |
| XR_938397.1:n.152A>C (GLA) | ||
| XR_938397.2:n.173A>C (GLA) | ||
| NM_001199973.2:c.301-4156T>G (RPL36A-HNRNPH2) | NP_001186902.2:n.301-4156T>G | |
| NM_001199974.2:c.178-4156T>G (RPL36A-HNRNPH2) | NP_001186903.2:n.178-4156T>G | |
| NM_000169.3:c.124A>C (GLA) MANE Select | NP_000160.1:p.Met42Leu | |
| NR_164783.1:n.146A>C (GLA) |