gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41022724 (AFR)
Genomes Max Group AF
0.41022724 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.57202815A>G , CM000676.2:g.57202815A>G | GRCh38 |
| NC_000014.8:g.57669533A>G , CM000676.1:g.57669533A>G | GRCh37 |
| NC_000014.7:g.56739286A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621441.5:c.*5794T>C MANE Select | ENSP00000484855.1:n.*5794T>C | |
| ENST00000413566.6:c.*5794T>C | ENSP00000389934.3:n.*5794T>C | |
| ENST00000621441.4:c.*5794T>C | ENSP00000484855.1:n.*5794T>C | |
| NM_006544.3:c.*5794T>C | NP_006535.1:n.*5794T>C | |
| NM_006544.4:c.*5794T>C MANE Select | NP_006535.1:n.*5794T>C |