gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62131675 (EAS)
Genomes Max Group AF
0.62131675 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087761C>T , CM000668.2:g.33087761C>T | GRCh38 |
| NC_000006.11:g.33055538C>T , CM000668.1:g.33055538C>T | GRCh37 |
| NC_000006.10:g.33163516C>T | NCBI36 |
| NG_033242.1:g.16836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.*1227C>T MANE Select | ENSP00000408146.2:n.*1227C>T | |
| NM_002121.5:c.*1227C>T | NP_002112.3:n.*1227C>T | |
| NM_002121.6:c.*1227C>T MANE Select | NP_002112.3:n.*1227C>T |