gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00156206 (NFE)
Genomes Max Group AF
0.00156275 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237833156A>G , CM000663.2:g.237833156A>G | GRCh38 |
| NC_000001.10:g.237996456A>G , CM000663.1:g.237996456A>G | GRCh37 |
| NC_000001.9:g.236063079A>G | NCBI36 |
| NG_008799.2:g.795755A>G | |
| NG_008799.3:g.795973A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*6505A>G | ENSP00000499659.2:n.*6505A>G | |
| ENST00000659194.3:c.*509A>G | ENSP00000499653.3:n.*509A>G | |
| ENST00000660292.2:c.*509A>G | ENSP00000499787.2:n.*509A>G | |
| ENST00000659194.2:c.7584A>G | ||
| ENST00000366574.7:c.*509A>G MANE Select | ENSP00000355533.2:n.*509A>G | |
| ENST00000366574.6:c.*509A>G | ENSP00000355533.2:n.*509A>G | |
| NM_001035.2:c.*509A>G | NP_001026.2:n.*509A>G | |
| XM_006711802.2:c.*509A>G | XP_006711865.1:n.*509A>G | |
| XM_006711803.2:c.*509A>G | XP_006711866.1:n.*509A>G | |
| XM_006711804.2:c.*509A>G | XP_006711867.1:n.*509A>G | |
| XM_006711805.2:c.*509A>G | XP_006711868.1:n.*509A>G | |
| XM_006711806.2:c.*509A>G | XP_006711869.1:n.*509A>G | |
| XM_006711807.2:c.*509A>G | XP_006711870.1:n.*509A>G | |
| XM_006711808.2:c.*509A>G | XP_006711871.1:n.*509A>G | |
| XM_006711810.2:c.*509A>G | XP_006711873.1:n.*509A>G | |
| XM_006711802.3:c.*509A>G | XP_006711865.1:n.*509A>G | |
| XM_006711803.3:c.*509A>G | XP_006711866.1:n.*509A>G | |
| XM_006711804.3:c.*509A>G | XP_006711867.1:n.*509A>G | |
| XM_006711805.3:c.*509A>G | XP_006711868.1:n.*509A>G | |
| XM_006711806.3:c.*509A>G | XP_006711869.1:n.*509A>G | |
| XM_006711807.3:c.*509A>G | XP_006711870.1:n.*509A>G | |
| XM_006711808.3:c.*509A>G | XP_006711871.1:n.*509A>G | |
| XM_006711810.3:c.*509A>G | XP_006711873.1:n.*509A>G | |
| XM_017002028.1:c.*509A>G | XP_016857517.1:n.*509A>G | |
| NM_001035.3:c.*509A>G MANE Select | NP_001026.2:n.*509A>G |