gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29702293 (AMR)
Genomes Max Group AF
0.29759716 (AMR)
Exomes Max Group AF
0.23456753 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232878399A>G , CM000664.2:g.232878399A>G | GRCh38 |
| NC_000002.11:g.233743109A>G , CM000664.1:g.233743109A>G | GRCh37 |
| NC_000002.10:g.233451353A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331342.5:c.*2043A>G MANE Select | ENSP00000333208.2:n.*2043A>G | |
| ENST00000467665.1:n.2477A>G | ||
| ENST00000481155.1:n.404-53A>G | ||
| XM_005246548.3:c.*92-53A>G | XP_005246605.2:n.*92-53A>G | |
| NM_001346120.1:c.*2043A>G | NP_001333049.1:n.*2043A>G | |
| NM_001346121.1:c.*2043A>G | NP_001333050.1:n.*2043A>G | |
| NM_001346122.1:c.*2043A>G | NP_001333051.1:n.*2043A>G | |
| NM_206895.2:c.*2043A>G | NP_996778.1:n.*2043A>G | |
| NR_144371.1:n.2532A>G | ||
| NR_144372.1:n.2496A>G | ||
| XM_017004082.2:c.*2043A>G | XP_016859571.1:n.*2043A>G | |
| XM_017004083.2:c.*2043A>G | XP_016859572.1:n.*2043A>G | |
| XM_017004084.2:c.*2043A>G | XP_016859573.1:n.*2043A>G | |
| XM_024452882.1:c.*2043A>G | XP_024308650.1:n.*2043A>G | |
| NM_206895.3:c.*2043A>G | NP_996778.1:n.*2043A>G | |
| NR_144372.2:n.2444A>G | ||
| NM_001346120.3:c.*2043A>G | NP_001333049.2:n.*2043A>G | |
| NM_001346121.2:c.*2043A>G | NP_001333050.2:n.*2043A>G | |
| NM_001346122.2:c.*2043A>G | NP_001333051.1:n.*2043A>G | |
| NM_001394206.1:c.*2043A>G MANE Select | NP_001381135.1:n.*2043A>G | |
| NM_001394207.1:c.*2043A>G | NP_001381136.1:n.*2043A>G | |
| NR_144371.2:n.2548A>G |