Revel Score:
ENST00000336615 (MANE Select)
0.972
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.822407A>G , CM000673.2:g.822407A>G | GRCh38 |
| NC_000011.9:g.822407A>G , CM000673.1:g.822407A>G | GRCh37 |
| NC_000011.8:g.812407A>G | NCBI36 |
| NG_023394.1:g.8507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.497A>G MANE Select | ENSP00000337701.4:p.Asp166Gly | |
| ENST00000336615.8:c.497A>G | ENSP00000337701.4:p.Asp166Gly | |
| ENST00000525250.5:n.1103A>G | ||
| ENST00000531923.1:n.392A>G | ||
| ENST00000617551.1:c.-754A>G | ENSP00000481602.1:n.-754A>G | |
| NM_020376.3:c.497A>G | NP_065109.1:p.Asp166Gly | |
| XM_006718265.2:c.497A>G | XP_006718328.1:p.Asp166Gly | |
| XM_006718266.2:c.497A>G | XP_006718329.1:p.Asp166Gly | |
| XM_006718265.3:c.497A>G | XP_006718328.1:p.Asp166Gly | |
| XM_006718266.3:c.497A>G | XP_006718329.1:p.Asp166Gly | |
| XM_017018028.1:c.497A>G | XP_016873517.1:p.Asp166Gly | |
| XM_024448618.1:c.497A>G | XP_024304386.1:p.Asp166Gly | |
| NM_020376.4:c.497A>G MANE Select | NP_065109.1:p.Asp166Gly |