gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00097158 (SAS)
Genomes Max Group AF
0.00097158 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237833755A>G , CM000663.2:g.237833755A>G | GRCh38 |
| NC_000001.10:g.237997055A>G , CM000663.1:g.237997055A>G | GRCh37 |
| NC_000001.9:g.236063678A>G | NCBI36 |
| NG_008799.2:g.796354A>G | |
| NG_008799.3:g.796572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*7104A>G | ENSP00000499659.2:n.*7104A>G | |
| ENST00000659194.3:c.*1108A>G | ENSP00000499653.3:n.*1108A>G | |
| ENST00000660292.2:c.*1108A>G | ENSP00000499787.2:n.*1108A>G | |
| ENST00000366574.7:c.*1108A>G MANE Select | ENSP00000355533.2:n.*1108A>G | |
| ENST00000366574.6:c.*1108A>G | ENSP00000355533.2:n.*1108A>G | |
| NM_001035.2:c.*1108A>G | NP_001026.2:n.*1108A>G | |
| XM_006711802.2:c.*1108A>G | XP_006711865.1:n.*1108A>G | |
| XM_006711803.2:c.*1108A>G | XP_006711866.1:n.*1108A>G | |
| XM_006711804.2:c.*1108A>G | XP_006711867.1:n.*1108A>G | |
| XM_006711805.2:c.*1108A>G | XP_006711868.1:n.*1108A>G | |
| XM_006711806.2:c.*1108A>G | XP_006711869.1:n.*1108A>G | |
| XM_006711807.2:c.*1108A>G | XP_006711870.1:n.*1108A>G | |
| XM_006711808.2:c.*1108A>G | XP_006711871.1:n.*1108A>G | |
| XM_006711810.2:c.*1108A>G | XP_006711873.1:n.*1108A>G | |
| XM_006711802.3:c.*1108A>G | XP_006711865.1:n.*1108A>G | |
| XM_006711810.3:c.*1108A>G | XP_006711873.1:n.*1108A>G | |
| NM_001035.3:c.*1108A>G MANE Select | NP_001026.2:n.*1108A>G |