ClinGen Classification:
Classification
Uncertain Significance
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00034492 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.0004256 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397415C>T , CM000681.2:g.1397415C>T | GRCh38 |
| NC_000019.9:g.1397414C>T , CM000681.1:g.1397414C>T | GRCh37 |
| NC_000019.8:g.1348414C>T | NCBI36 |
| NG_008283.1:g.18532C>T | |
| NG_009785.1:g.9139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.655G>A MANE Select | ENSP00000252288.1:p.Asp219Asn | |
| ENST00000640164.1:n.488G>A | ||
| ENST00000640762.1:c.586G>A | ENSP00000492031.1:p.Asp196Asn | |
| ENST00000252288.6:c.655G>A | ENSP00000252288.1:p.Asp219Asn | |
| NM_000156.5:c.655G>A | NP_000147.1:p.Asp219Asn | |
| NM_000156.6:c.655G>A MANE Select | NP_000147.1:p.Asp219Asn |