gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84811056 (EAS)
Genomes Max Group AF
0.84811056 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65640261C>T , CM000663.2:g.65640261C>T | GRCh38 |
| NC_000001.10:g.66105944C>T , CM000663.1:g.66105944C>T | GRCh37 |
| NC_000001.9:g.65878532C>T | NCBI36 |
| NG_015831.2:g.224697C>T , LRG_283:g.224697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.*3246C>T MANE Select | ENSP00000330393.7:n.*3246C>T | |
| ENST00000349533.10:c.*3246C>T | ENSP00000330393.6:n.*3246C>T | |
| NM_002303.6:c.*3246C>T MANE Select | NP_002294.2:n.*3246C>T |