gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001926 (AFR)
Genomes Max Group AF
0.00001926 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106659346T>A , CM000669.2:g.106659346T>A | GRCh38 |
| NC_000007.13:g.106299792T>A , CM000669.1:g.106299792T>A | GRCh37 |
| NC_000007.12:g.106087028T>A | NCBI36 |
| NG_051955.1:g.6843A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523505.3:c.*843A>T MANE Select | ENSP00000430897.2:n.*843A>T | |
| ENST00000315965.6:c.*553A>T | ENSP00000479540.1:n.*553A>T | |
| ENST00000523505.1:c.*843A>T | ENSP00000430897.1:n.*843A>T | |
| NM_175884.4:c.*843A>T | NP_787080.2:n.*843A>T | |
| NM_175884.5:c.*843A>T | NP_787080.2:n.*843A>T | |
| XR_001745317.1:n.120-43575A>T | ||
| NM_175884.6:c.*843A>T MANE Select | NP_787080.2:n.*843A>T |