gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33647047 (AMR)
Genomes Max Group AF
0.29066883 (SAS)
Exomes Max Group AF
0.36409553 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.138014190A>G , CM000664.2:g.138014190A>G | GRCh38 |
| NC_000002.11:g.138771760A>G , CM000664.1:g.138771760A>G | GRCh37 |
| NC_000002.10:g.138488230A>G | NCBI36 |
| NG_012966.1:g.54953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280097.5:c.*60A>G MANE Select | ENSP00000280097.3:n.*60A>G | |
| ENST00000280097.4:c.*60A>G | ENSP00000280097.3:n.*60A>G | |
| ENST00000410115.5:c.*60A>G | ENSP00000386940.1:n.*60A>G | |
| NM_006895.2:c.*60A>G | NP_008826.1:n.*60A>G | |
| XM_011511063.1:c.*60A>G | XP_011509365.1:n.*60A>G | |
| XM_011511064.1:c.*60A>G | XP_011509366.1:n.*60A>G | |
| XM_011511064.2:c.*60A>G | XP_011509366.1:n.*60A>G | |
| XM_017003948.1:c.*60A>G | XP_016859437.1:n.*60A>G | |
| XR_001739719.1:n.232-6394T>C | ||
| XR_002959286.1:n.1326A>G | ||
| NM_006895.3:c.*60A>G MANE Select | NP_008826.1:n.*60A>G |