gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29761689 (NFE)
Genomes Max Group AF
0.29761689 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179741096T>C , CM000667.2:g.179741096T>C | GRCh38 |
| NC_000005.9:g.179168097T>C , CM000667.1:g.179168097T>C | GRCh37 |
| NC_000005.8:g.179100703T>C | NCBI36 |
| NG_046922.1:g.13247T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292599.4:c.315+7669T>C MANE Select | ENSP00000292599.3:n.315+7669T>C | |
| ENST00000292599.3:c.315+7669T>C | ENSP00000292599.3:n.315+7669T>C | |
| ENST00000503050.5:n.58+7669T>C | ||
| NM_014757.4:c.315+7669T>C | NP_055572.1:n.315+7669T>C | |
| NM_014757.5:c.315+7669T>C MANE Select | NP_055572.1:n.315+7669T>C |