gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30497296 (NFE)
Genomes Max Group AF
0.30497296 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49560304T>C , CM000665.2:g.49560304T>C | GRCh38 |
| NC_000003.11:g.49597737T>C , CM000665.1:g.49597737T>C | GRCh37 |
| NC_000003.10:g.49572741T>C | NCBI36 |
| NG_015892.1:g.10816T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296452.5:c.224+5478T>C MANE Select | ENSP00000296452.4:n.224+5478T>C | |
| ENST00000296452.4:c.224+5478T>C | ENSP00000296452.4:n.224+5478T>C | |
| NM_003458.3:c.224+5478T>C | NP_003449.2:n.224+5478T>C | |
| NM_003458.4:c.224+5478T>C MANE Select | NP_003449.2:n.224+5478T>C |