Revel Score:
ENST00000218516 (MANE Select)
0.621
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043448 (AMR)
Genomes Max Group AF
0.00010581 (AFR)
Exomes Max Group AF
0.00049292 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398504T>C , CM000685.2:g.101398504T>C | GRCh38 |
| NC_000023.10:g.100653492T>C , CM000685.1:g.100653492T>C | GRCh37 |
| NC_000023.9:g.100540148T>C | NCBI36 |
| NG_007119.1:g.14460A>G , LRG_672:g.14460A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*311A>G (GLA) | ENSP00000501124.2:n.*311A>G | |
| ENST00000674127.2:c.*368A>G (GLA) | ENSP00000501044.2:n.*368A>G | |
| ENST00000710365.1:c.940A>G (GLA) | ENSP00000518234.1:p.Ile314Val | |
| ENST00000218516.4:c.865A>G (GLA) MANE Select | ENSP00000218516.4:p.Ile289Val | |
| ENST00000466414.2:n.1001A>G (GLA) | ||
| ENST00000468823.2:n.2017A>G (GLA) | ||
| ENST00000479445.2:n.1479A>G (GLA) | ||
| ENST00000480513.6:c.*173A>G (GLA) | ENSP00000497055.1:n.*173A>G | |
| ENST00000486121.6:c.910A>G (GLA) | ||
| ENST00000649178.1:c.988A>G (GLA) | ENSP00000498186.1:p.Ile330Val | |
| ENST00000674127.1:c.965A>G (GLA) | ENSP00000501044.1:n.965A>G | |
| ENST00000674142.1:n.1169A>G (GLA) | ||
| ENST00000674634.2:c.865A>G (GLA) | ENSP00000502629.2:p.Ile289Val | |
| ENST00000675592.1:c.801+281A>G (GLA) | ENSP00000502239.1:n.801+281A>G | |
| ENST00000675799.1:c.*390A>G (GLA) | ENSP00000502661.1:n.*390A>G | |
| ENST00000675968.1:n.3736A>G (GLA) | ||
| ENST00000676156.1:c.829A>G (GLA) | ENSP00000501730.1:p.Ile277Val | |
| ENST00000676372.1:c.931A>G (GLA) | ENSP00000502805.1:n.931A>G | |
| ENST00000218516.3:c.865A>G (GLA) | ENSP00000218516.3:p.Ile289Val | |
| ENST00000409170.3:c.300+3047T>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3047T>C | |
| ENST00000409338.5:c.177+6682T>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6682T>C | |
| ENST00000466414.1:n.191A>G (GLA) | ||
| ENST00000493905.6:c.*253A>G (GLA) | ENSP00000476935.1:n.*253A>G | |
| NM_000169.2:c.865A>G , LRG_672t1:c.865A>G (GLA) | NP_000160.1:p.Ile289Val | |
| NM_001199973.1:c.408+3047T>C (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3047T>C | |
| NM_001199974.1:c.285+6682T>C (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6682T>C | |
| XR_938397.1:n.950A>G (GLA) | ||
| XR_938397.2:n.971A>G (GLA) | ||
| NM_001199973.2:c.300+3047T>C (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3047T>C | |
| NM_001199974.2:c.177+6682T>C (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6682T>C | |
| NM_000169.3:c.865A>G (GLA) MANE Select | NP_000160.1:p.Ile289Val | |
| NR_164783.1:n.944A>G (GLA) |