ClinGen Evidence Repository:
Classification
Pathogenic
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00055862 (NFE)
Genomes Max Group AF
0.00020676 (NFE)
Exomes Max Group AF
0.00057514 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399793C>T , CM000681.2:g.1399793C>T | GRCh38 |
| NC_000019.9:g.1399792C>T , CM000681.1:g.1399792C>T | GRCh37 |
| NC_000019.8:g.1350792C>T | NCBI36 |
| NG_009785.1:g.6761G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.327G>A MANE Select | ENSP00000252288.1:p.Lys109= | |
| ENST00000447102.8:c.327G>A | ENSP00000403536.2:p.Lys109= | |
| ENST00000591788.3:c.10G>A | ||
| ENST00000640762.1:c.258G>A | ENSP00000492031.1:p.Lys86= | |
| ENST00000252288.6:c.327G>A | ENSP00000252288.1:p.Lys109= | |
| ENST00000447102.7:c.327G>A | ENSP00000403536.2:p.Lys109= | |
| ENST00000591788.2:c.12G>A | ENSP00000466341.2:p.Lys4= | |
| NM_000156.5:c.327G>A | NP_000147.1:p.Lys109= | |
| NM_138924.2:c.327G>A | NP_620279.1:p.Lys109= | |
| NM_000156.6:c.327G>A MANE Select | NP_000147.1:p.Lys109= | |
| NM_138924.3:c.327G>A | NP_620279.1:p.Lys109= |