gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000388 (NFE)
Genomes Max Group AF
0.00001491 (NFE)
Exomes Max Group AF
0.00000176 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398113A>G , CM000685.2:g.101398113A>G | GRCh38 |
| NC_000023.10:g.100653101A>G , CM000685.1:g.100653101A>G | GRCh37 |
| NC_000023.9:g.100539757A>G | NCBI36 |
| NG_007119.1:g.14851T>C , LRG_672:g.14851T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*446-14T>C (GLA) | ENSP00000501124.2:n.*446-14T>C | |
| ENST00000674127.2:c.*503-14T>C (GLA) | ENSP00000501044.2:n.*503-14T>C | |
| ENST00000710365.1:c.1075-14T>C (GLA) | ENSP00000518234.1:n.1075-14T>C | |
| ENST00000218516.4:c.1000-14T>C (GLA) MANE Select | ENSP00000218516.4:n.1000-14T>C | |
| ENST00000466414.2:n.1136-14T>C (GLA) | ||
| ENST00000468823.2:n.2408T>C (GLA) | ||
| ENST00000479445.2:n.1614-14T>C (GLA) | ||
| ENST00000480513.6:c.*308-14T>C (GLA) | ENSP00000497055.1:n.*308-14T>C | |
| ENST00000486121.6:c.1045-14T>C (GLA) | ||
| ENST00000649178.1:c.1123-14T>C (GLA) | ENSP00000498186.1:n.1123-14T>C | |
| ENST00000674127.1:c.1100-14T>C (GLA) | ENSP00000501044.1:n.1100-14T>C | |
| ENST00000674142.1:n.1304-14T>C (GLA) | ||
| ENST00000675592.1:c.802-14T>C (GLA) | ENSP00000502239.1:n.802-14T>C | |
| ENST00000675799.1:c.*525-14T>C (GLA) | ENSP00000502661.1:n.*525-14T>C | |
| ENST00000675968.1:n.3871-14T>C (GLA) | ||
| ENST00000676156.1:c.964-14T>C (GLA) | ENSP00000501730.1:n.964-14T>C | |
| ENST00000676372.1:c.1066-14T>C (GLA) | ENSP00000502805.1:n.1066-14T>C | |
| ENST00000218516.3:c.1000-14T>C (GLA) | ENSP00000218516.3:n.1000-14T>C | |
| ENST00000409170.3:c.300+2656A>G (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2656A>G | |
| ENST00000409338.5:c.177+6291A>G (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6291A>G | |
| ENST00000466414.1:n.326-14T>C (GLA) | ||
| ENST00000493905.6:c.*388-14T>C (GLA) | ENSP00000476935.1:n.*388-14T>C | |
| NM_000169.2:c.1000-14T>C , LRG_672t1:c.1000-14T>C (GLA) | NP_000160.1:n.1000-14T>C | |
| NM_001199973.1:c.408+2656A>G (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2656A>G | |
| NM_001199974.1:c.285+6291A>G (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6291A>G | |
| XR_938397.1:n.1085-14T>C (GLA) | ||
| XR_938397.2:n.1106-14T>C (GLA) | ||
| NM_001199973.2:c.300+2656A>G (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2656A>G | |
| NM_001199974.2:c.177+6291A>G (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6291A>G | |
| NM_000169.3:c.1000-14T>C (GLA) MANE Select | NP_000160.1:n.1000-14T>C | |
| NR_164783.1:n.1079-14T>C (GLA) |