Revel Score:
ENST00000266688
0.205
ENST00000532722
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00164223 (EAS)
Genomes Max Group AF
0.00224528 (EAS)
Exomes Max Group AF
0.0014241 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80539915A>G , CM000674.2:g.80539915A>G | GRCh38 |
| NC_000012.11:g.80933694A>G , CM000674.1:g.80933694A>G | GRCh37 |
| NC_000012.10:g.79457825A>G | NCBI36 |
| NG_034052.1:g.100570A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.3125A>G MANE Select | ENSP00000495607.1:p.Asp1042Gly | |
| ENST00000614701.4:c.3125A>G | ENSP00000482885.1:p.Asp1042Gly | |
| ENST00000616559.4:c.3251A>G | ENSP00000483259.1:p.Asp1084Gly | |
| NM_001145026.1:c.3125A>G | NP_001138498.1:p.Asp1042Gly | |
| XM_011538290.1:c.3125A>G | XP_011536592.1:p.Asp1042Gly | |
| XM_017019273.1:c.3791A>G | XP_016874762.1:p.Asp1264Gly | |
| XM_017019274.1:c.3791A>G | XP_016874763.1:p.Asp1264Gly | |
| XM_017019275.1:c.3791A>G | XP_016874764.1:p.Asp1264Gly | |
| XR_001748688.1:n.3928A>G | ||
| XR_001748689.1:n.3928A>G | ||
| NM_001145026.2:c.3125A>G MANE Select | NP_001138498.1:p.Asp1042Gly |