gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44007249 (SAS)
Genomes Max Group AF
0.44007249 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52328382C>T , CM000676.2:g.52328382C>T | GRCh38 |
| NC_000014.8:g.52795100C>T , CM000676.1:g.52795100C>T | GRCh37 |
| NC_000014.7:g.51864850C>T | NCBI36 |
| NG_013082.1:g.19085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245457.6:c.*928C>T MANE Select | ENSP00000245457.5:n.*928C>T | |
| ENST00000245457.5:c.*928C>T | ENSP00000245457.5:n.*928C>T | |
| NM_000956.3:c.*928C>T | NP_000947.2:n.*928C>T | |
| NM_000956.4:c.*928C>T MANE Select | NP_000947.2:n.*928C>T |