gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31751183 (SAS)
Genomes Max Group AF
0.31751183 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94787706C>T , CM000672.2:g.94787706C>T | GRCh38 |
| NC_000010.10:g.96547463C>T , CM000672.1:g.96547463C>T | GRCh37 |
| NC_000010.9:g.96537453C>T | NCBI36 |
| NG_008384.2:g.30001C>T | |
| NG_008384.3:g.30026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.819+5709C>T MANE Select | ENSP00000360372.3:n.819+5709C>T | |
| ENST00000645461.1:n.1872+5709C>T | ||
| ENST00000371321.7:c.819+5709C>T | ENSP00000360372.3:n.819+5709C>T | |
| ENST00000464755.1:c.1582+5709C>T | ENSP00000483243.1:n.1582+5709C>T | |
| NM_000769.2:c.819+5709C>T | NP_000760.1:n.819+5709C>T | |
| NM_000769.4:c.819+5709C>T MANE Select | NP_000760.1:n.819+5709C>T |