gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01708775 (AMR)
Genomes Max Group AF
0.01708775 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19703935G>A , CM000686.2:g.19703935G>A | GRCh38 |
| NC_000024.9:g.21865821G>A , CM000686.1:g.21865821G>A | GRCh37 |
| NC_000024.8:g.20325209G>A | NCBI36 |
| NG_032920.1:g.46005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.*2060C>T MANE Select | ENSP00000322408.4:n.*2060C>T | |
| ENST00000469599.6:n.5431C>T | ||
| NM_001146706.2:c.*2060C>T | NP_001140178.1:n.*2060C>T | |
| NM_004653.5:c.*2060C>T MANE Select | NP_004644.2:n.*2060C>T | |
| NM_001146705.2:c.*2060C>T | NP_001140177.1:n.*2060C>T |