gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59383921 (EAS)
Genomes Max Group AF
0.6063329 (EAS)
Exomes Max Group AF
0.20294033 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087084A>G , CM000668.2:g.33087084A>G | GRCh38 |
| NC_000006.11:g.33054861A>G , CM000668.1:g.33054861A>G | GRCh37 |
| NC_000006.10:g.33162839A>G | NCBI36 |
| NG_033242.1:g.16159A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.*550A>G MANE Select | ENSP00000408146.2:n.*550A>G | |
| ENST00000416804.1:c.1244A>G | ||
| ENST00000418931.6:c.*550A>G | ENSP00000408146.2:n.*550A>G | |
| NM_002121.5:c.*550A>G | NP_002112.3:n.*550A>G | |
| NM_002121.6:c.*550A>G MANE Select | NP_002112.3:n.*550A>G |