gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40225621 (AFR)
Genomes Max Group AF
0.40225621 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45869316A>G , CM000669.2:g.45869316A>G | GRCh38 |
| NC_000007.13:g.45908915A>G , CM000669.1:g.45908915A>G | GRCh37 |
| NC_000007.12:g.45875440A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636578.2:c.19-2822T>C MANE Select | ENSP00000489712.1:n.19-2822T>C | |
| NM_001395235.1:c.19-2822T>C MANE Select | NP_001382164.1:n.19-2822T>C |