gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77129511 (EAS)
Genomes Max Group AF
0.77129511 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960191G>A , CM000667.2:g.63960191G>A | GRCh38 |
| NC_000005.9:g.63256018G>A , CM000667.1:g.63256018G>A | GRCh37 |
| NC_000005.8:g.63291774G>A | NCBI36 |
| NG_032816.1:g.7102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*260C>T MANE Select | ENSP00000316244.4:n.*260C>T | |
| NM_000524.3:c.*260C>T | NP_000515.2:n.*260C>T | |
| NM_000524.4:c.*260C>T MANE Select | NP_000515.2:n.*260C>T |