gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45104065 (SAS)
Genomes Max Group AF
0.45104065 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103454008G>A , CM000672.2:g.103454008G>A | GRCh38 |
| NC_000010.10:g.105213765G>A , CM000672.1:g.105213765G>A | GRCh37 |
| NC_000010.9:g.105203755G>A | NCBI36 |
| NG_016855.1:g.9884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.*1254C>T MANE Select | ENSP00000329926.6:n.*1254C>T | |
| ENST00000329905.5:c.*1254C>T | ENSP00000329926.5:n.*1254C>T | |
| NM_001001412.3:c.*1254C>T | NP_001001412.3:n.*1254C>T | |
| NM_001001412.4:c.*1254C>T MANE Select | NP_001001412.3:n.*1254C>T |