ClinGen Evidence Repository:
Classification
Likely Pathogenic
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399005T>A , CM000681.2:g.1399005T>A | GRCh38 |
| NC_000019.9:g.1399004T>A , CM000681.1:g.1399004T>A | GRCh37 |
| NC_000019.8:g.1350004T>A | NCBI36 |
| NG_009785.1:g.7549A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.481A>T MANE Select | ENSP00000252288.1:p.Lys161Ter | |
| ENST00000447102.8:c.481A>T | ENSP00000403536.2:p.Lys161Ter | |
| ENST00000591788.3:c.164A>T | ||
| ENST00000640164.1:n.314A>T | ||
| ENST00000640762.1:c.412A>T | ENSP00000492031.1:p.Lys138Ter | |
| ENST00000252288.6:c.481A>T | ENSP00000252288.1:p.Lys161Ter | |
| ENST00000447102.7:c.481A>T | ENSP00000403536.2:p.Lys161Ter | |
| ENST00000591788.2:c.166A>T | ENSP00000466341.2:p.Lys56Ter | |
| NM_000156.5:c.481A>T | NP_000147.1:p.Lys161Ter | |
| NM_138924.2:c.481A>T | NP_620279.1:p.Lys161Ter | |
| NM_000156.6:c.481A>T MANE Select | NP_000147.1:p.Lys161Ter | |
| NM_138924.3:c.481A>T | NP_620279.1:p.Lys161Ter |