gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16989778 (AMR)
Genomes Max Group AF
0.16989778 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2337259G>A , CM000678.2:g.2337259G>A | GRCh38 |
| NC_000016.9:g.2387260G>A , CM000678.1:g.2387260G>A | GRCh37 |
| NC_000016.8:g.2327261G>A | NCBI36 |
| NG_011790.1:g.8488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.-539+3314C>T MANE Select | ENSP00000301732.5:n.-539+3314C>T | |
| ENST00000301732.9:c.-539+3314C>T | ENSP00000301732.5:n.-539+3314C>T | |
| ENST00000382381.7:c.-539+3314C>T | ENSP00000371818.3:n.-539+3314C>T | |
| ENST00000563623.5:n.25+3314C>T | ||
| NM_001089.2:c.-539+3314C>T | NP_001080.2:n.-539+3314C>T | |
| NM_001089.3:c.-539+3314C>T MANE Select | NP_001080.2:n.-539+3314C>T |