MyVariant.info:
GRCh38
chr9:g.133266790C>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70386431 (AMR)
Genomes Max Group AF
0.70386431 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133266790C>A , CM000671.2:g.133266790C>A | GRCh38 |
| NG_006669.2:g.13425G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.59-4622G>T | ||
| ENST00000647353.1:n.53+8372G>T | ||
| ENST00000651471.1:n.64-4622G>T | ||
| ENST00000679909.1:c.28+8372G>T | ENSP00000506089.1:n.28+8372G>T | |
| ENST00000453660.3:n.41-4622G>T | ||
| ENST00000538324.2:c.29-4622G>T | ENSP00000483018.1:n.29-4622G>T | |
| ENST00000611156.4:c.29-4622G>T | ENSP00000483265.1:n.29-4622G>T | |
| NM_020469.2:c.29-4622G>T | NP_065202.2:n.29-4622G>T | |
| NM_020469.3:c.29-4622G>T | NP_065202.2:n.29-4622G>T |