ClinGen Evidence Repository:
Classification
Likely Pathogenic
Revel Score:
ENST00000252288 (MANE Select)
0.919
ENST00000447102
0.919
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1398995C>T , CM000681.2:g.1398995C>T | GRCh38 |
| NC_000019.9:g.1398994C>T , CM000681.1:g.1398994C>T | GRCh37 |
| NC_000019.8:g.1349994C>T | NCBI36 |
| NG_009785.1:g.7559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.491G>A MANE Select | ENSP00000252288.1:p.Gly164Asp | |
| ENST00000447102.8:c.491G>A | ENSP00000403536.2:p.Gly164Asp | |
| ENST00000591788.3:c.174G>A | ||
| ENST00000640164.1:n.324G>A | ||
| ENST00000640762.1:c.422G>A | ENSP00000492031.1:p.Gly141Asp | |
| ENST00000252288.6:c.491G>A | ENSP00000252288.1:p.Gly164Asp | |
| ENST00000447102.7:c.491G>A | ENSP00000403536.2:p.Gly164Asp | |
| ENST00000591788.2:c.176G>A | ENSP00000466341.2:p.Gly59Asp | |
| NM_000156.5:c.491G>A | NP_000147.1:p.Gly164Asp | |
| NM_138924.2:c.491G>A | NP_620279.1:p.Gly164Asp | |
| NM_000156.6:c.491G>A MANE Select | NP_000147.1:p.Gly164Asp | |
| NM_138924.3:c.491G>A | NP_620279.1:p.Gly164Asp |