gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56236858 (NFE)
Genomes Max Group AF
0.56236858 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.66538446A>G , CM000664.2:g.66538446A>G | GRCh38 |
| NC_000002.11:g.66765578A>G , CM000664.1:g.66765578A>G | GRCh37 |
| NC_000002.10:g.66619082A>G | NCBI36 |
| NG_011467.1:g.108047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272369.14:c.889-9497A>G MANE Select | ENSP00000272369.8:n.889-9497A>G | |
| ENST00000272369.13:c.889-9497A>G | ENSP00000272369.8:n.889-9497A>G | |
| ENST00000398506.6:c.883-9497A>G | ENSP00000381518.2:n.883-9497A>G | |
| ENST00000409517.5:n.203-9497A>G | ||
| ENST00000450027.2:n.344-9497A>G | ||
| ENST00000475239.5:n.449-9497A>G | ||
| ENST00000488550.5:c.889-9497A>G | ENSP00000475161.1:n.889-9497A>G | |
| ENST00000495021.6:c.694-9497A>G | ENSP00000440571.1:n.694-9497A>G | |
| ENST00000542964.5:n.322-9497A>G | ||
| ENST00000560281.6:c.889-9497A>G | ENSP00000454209.1:n.889-9497A>G | |
| ENST00000606455.5:n.343-9497A>G | ||
| NM_002398.2:c.889-9497A>G | NP_002389.1:n.889-9497A>G | |
| XM_005264321.1:c.937-9497A>G | XP_005264378.1:n.937-9497A>G | |
| XM_005264322.1:c.889-9497A>G | XP_005264379.1:n.889-9497A>G | |
| XM_005264323.1:c.937-9497A>G | XP_005264380.1:n.937-9497A>G | |
| XM_005264324.3:c.694-9497A>G | XP_005264381.1:n.694-9497A>G | |
| XM_005264325.3:c.694-9497A>G | XP_005264382.1:n.694-9497A>G | |
| XR_244932.1:n.1523-9497A>G | ||
| XR_244933.1:n.1523-9497A>G | ||
| NM_002398.3:c.889-9497A>G MANE Select | NP_002389.1:n.889-9497A>G |