Revel Score:
ENST00000261609 (MANE Select)
0.318
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.014252 (SAS)
Genomes Max Group AF
0.01844664 (SAS)
Exomes Max Group AF
0.01385745 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28130164A>T , CM000677.2:g.28130164A>T | GRCh38 |
| NC_000015.9:g.28375310A>T , CM000677.1:g.28375310A>T | GRCh37 |
| NC_000015.8:g.26048905A>T | NCBI36 |
| NG_016355.1:g.196986T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.12801T>A MANE Select | ENSP00000261609.8:p.Asp4267Glu | |
| ENST00000650509.1:c.4281+1936T>A | ENSP00000496936.1:n.4281+1936T>A | |
| ENST00000261609.11:c.12801T>A | ENSP00000261609.7:p.Asp4267Glu | |
| NM_004667.5:c.12801T>A | NP_004658.3:p.Asp4267Glu | |
| XM_005268276.3:c.12687T>A | XP_005268333.1:p.Asp4229Glu | |
| XM_005268277.3:c.12687T>A | XP_005268334.1:p.Asp4229Glu | |
| XM_006720726.2:c.12786T>A | XP_006720789.1:p.Asp4262Glu | |
| XM_006720727.2:c.12543T>A | XP_006720790.1:p.Asp4181Glu | |
| XM_011522131.1:c.12318T>A | XP_011520433.1:p.Asp4106Glu | |
| XM_011522132.1:c.10317T>A | XP_011520434.1:p.Asp3439Glu | |
| XM_011522133.1:c.9546T>A | XP_011520435.1:p.Asp3182Glu | |
| XM_011522134.1:c.6918T>A | XP_011520436.1:p.Asp2306Glu | |
| XM_005268276.5:c.12687T>A | XP_005268333.1:p.Asp4229Glu | |
| XM_006720726.3:c.12786T>A | XP_006720789.1:p.Asp4262Glu | |
| XM_006720727.3:c.12543T>A | XP_006720790.1:p.Asp4181Glu | |
| XM_017022695.1:c.12687T>A | XP_016878184.1:p.Asp4229Glu | |
| XM_017022696.1:c.12687T>A | XP_016878185.1:p.Asp4229Glu | |
| XM_017022697.1:c.5967T>A | XP_016878186.1:p.Asp1989Glu | |
| XM_017022698.1:c.5967T>A | XP_016878187.1:p.Asp1989Glu | |
| NM_004667.6:c.12801T>A MANE Select | NP_004658.3:p.Asp4267Glu |