gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35658869 (AFR)
Genomes Max Group AF
0.35658869 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120324989C>T , CM000665.2:g.120324989C>T | GRCh38 |
| NC_000003.11:g.120043836C>T , CM000665.1:g.120043836C>T | GRCh37 |
| NC_000003.10:g.121526526C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295628.4:c.*6211G>A MANE Select | ENSP00000295628.3:n.*6211G>A | |
| ENST00000295628.3:c.*6211G>A | ENSP00000295628.3:n.*6211G>A | |
| NM_001099678.1:c.*6211G>A | NP_001093148.1:n.*6211G>A | |
| NM_001099678.2:c.*6211G>A MANE Select | NP_001093148.1:n.*6211G>A |