gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31463046 (AFR)
Genomes Max Group AF
0.31456928 (AFR)
Exomes Max Group AF
0.24619603 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216205653A>G , CM000664.2:g.216205653A>G | GRCh38 |
| NC_000002.11:g.217070376A>G , CM000664.1:g.217070376A>G | GRCh37 |
| NC_000002.10:g.216778621A>G | NCBI36 |
| NG_029780.1:g.101357A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.*451A>G MANE Select | ENSP00000375977.2:n.*451A>G | |
| ENST00000392132.6:c.*451A>G | ENSP00000375977.2:n.*451A>G | |
| ENST00000392133.7:c.*451A>G | ENSP00000375978.3:n.*451A>G | |
| NM_021141.3:c.*451A>G | NP_066964.1:n.*451A>G | |
| NM_021141.4:c.*451A>G MANE Select | NP_066964.1:n.*451A>G |