gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02526908 (SAS)
Genomes Max Group AF
0.02526908 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116857528A>G , CM000674.2:g.116857528A>G | GRCh38 |
| NC_000012.11:g.117295333A>G , CM000674.1:g.117295333A>G | GRCh37 |
| NC_000012.10:g.115779716A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257572.5:c.*3995T>C MANE Select | ENSP00000257572.4:n.*3995T>C | |
| NM_003806.3:c.*3995T>C | NP_003797.1:n.*3995T>C | |
| NR_073189.2:n.4731T>C | ||
| XM_017020146.1:c.*4307T>C | XP_016875635.1:n.*4307T>C | |
| NM_003806.4:c.*3995T>C MANE Select | NP_003797.1:n.*3995T>C | |
| NR_073189.3:n.4745T>C |