gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08687547 (SAS)
Genomes Max Group AF
0.08687547 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14197151T>C , CM000673.2:g.14197151T>C | GRCh38 |
| NC_000011.9:g.14218697T>C , CM000673.1:g.14218697T>C | GRCh37 |
| NC_000011.8:g.14175273T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576479.4:c.826-46181T>C MANE Select | ENSP00000460236.1:n.826-46181T>C | |
| ENST00000576479.3:c.826-46181T>C | ENSP00000460236.1:n.826-46181T>C | |
| NM_006108.3:c.826-46181T>C | NP_006099.2:n.826-46181T>C | |
| NM_006108.4:c.826-46181T>C MANE Select | NP_006099.2:n.826-46181T>C |