Revel Score:
ENST00000321871 (MANE Select)
0.351
ENST00000393130
0.351
ENST00000515826
0.351
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008997 (AMR)
Genomes Max Group AF
0.00012872 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133381020G>A , CM000665.2:g.133381020G>A | GRCh38 |
| NC_000003.11:g.133099864G>A , CM000665.1:g.133099864G>A | GRCh37 |
| NC_000003.10:g.134582554G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321871.11:c.1309G>A MANE Select | ENSP00000324651.6:p.Gly437Arg | |
| ENST00000321871.10:c.1309G>A | ENSP00000324651.6:p.Gly437Arg | |
| ENST00000393130.7:c.1309G>A | ENSP00000376838.3:p.Gly437Arg | |
| ENST00000508711.5:c.41-9160G>A | ENSP00000424897.1:n.41-9160G>A | |
| ENST00000511388.1:n.1304G>A | ||
| ENST00000515826.1:c.1309G>A | ENSP00000423338.1:p.Gly437Arg | |
| NM_001136469.2:c.1309G>A | NP_001129941.1:p.Gly437Arg | |
| NM_001282865.1:c.41-9160G>A | NP_001269794.1:n.41-9160G>A | |
| NM_023943.3:c.1309G>A | NP_076432.1:p.Gly437Arg | |
| XM_005247725.3:c.1309G>A | XP_005247782.1:p.Gly437Arg | |
| XM_011513094.1:c.1381G>A | XP_011511396.1:p.Gly461Arg | |
| XM_011513095.1:c.1309G>A | XP_011511397.1:p.Gly437Arg | |
| XM_011513096.1:c.1309G>A | XP_011511398.1:p.Gly437Arg | |
| XM_011513097.1:c.1309G>A | XP_011511399.1:p.Gly437Arg | |
| XM_011513098.1:c.1291G>A | XP_011511400.1:p.Gly431Arg | |
| XR_924502.1:n.4677+643C>T | ||
| XR_924503.1:n.4677+643C>T | ||
| XR_924504.1:n.4677+643C>T | ||
| XR_924505.1:n.4677+643C>T | ||
| XR_924506.1:n.4677+643C>T | ||
| XR_924507.1:n.4677+643C>T | ||
| XR_924508.1:n.4677+643C>T | ||
| XR_924509.1:n.4677+643C>T | ||
| XR_924510.1:n.4677+643C>T | ||
| XM_011513097.2:c.1309G>A | XP_011511399.1:p.Gly437Arg | |
| XM_011513098.2:c.1291G>A | XP_011511400.1:p.Gly431Arg | |
| XM_017007080.1:c.1291G>A | XP_016862569.1:p.Gly431Arg | |
| XM_017007081.1:c.41-9160G>A | XP_016862570.1:n.41-9160G>A | |
| XM_017007082.1:c.41-9160G>A | XP_016862571.1:n.41-9160G>A | |
| XR_001740910.1:n.4677+643C>T | ||
| XR_001740911.1:n.4677+643C>T | ||
| XR_001740912.1:n.4677+643C>T | ||
| XR_001740913.1:n.4677+643C>T | ||
| XR_001740914.1:n.4677+643C>T | ||
| XR_001740915.1:n.4677+643C>T | ||
| XR_001740916.2:n.4677+643C>T | ||
| XR_001740917.1:n.4677+643C>T | ||
| XR_001740918.1:n.4677+643C>T | ||
| XR_001740919.1:n.4677+643C>T | ||
| XR_001740920.1:n.4677+643C>T | ||
| XR_001740921.2:n.4677+643C>T | ||
| NM_023943.4:c.1309G>A MANE Select | NP_076432.1:p.Gly437Arg | |
| NM_001136469.3:c.1309G>A | NP_001129941.1:p.Gly437Arg | |
| NM_001282865.2:c.41-9160G>A | NP_001269794.1:n.41-9160G>A |