gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65765712 (MID)
Genomes Max Group AF
0.62524821 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158014540A>G , CM000668.2:g.158014540A>G | GRCh38 |
| NC_000006.11:g.158435572A>G , CM000668.1:g.158435572A>G | GRCh37 |
| NC_000006.10:g.158355560A>G | NCBI36 |
| NG_029907.1:g.37685A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355585.9:c.128-2664A>G MANE Select | ENSP00000347792.4:n.128-2664A>G | |
| ENST00000367113.5:c.52-2664A>G | ||
| ENST00000640338.1:c.128-2664A>G | ENSP00000492532.1:n.128-2664A>G | |
| ENST00000355585.8:c.128-2664A>G | ENSP00000347792.4:n.128-2664A>G | |
| ENST00000367113.4:c.52-2664A>G | ||
| NM_003898.3:c.128-2664A>G | NP_003889.1:n.128-2664A>G | |
| XM_006715592.2:c.128-2664A>G | XP_006715655.1:n.128-2664A>G | |
| XM_011536224.1:c.128-2664A>G | XP_011534526.1:n.128-2664A>G | |
| XM_011536225.1:c.-584-2664A>G | XP_011534527.1:n.-584-2664A>G | |
| XM_011536227.1:c.128-2664A>G | XP_011534529.1:n.128-2664A>G | |
| XM_011536229.1:c.128-2664A>G | XP_011534531.1:n.128-2664A>G | |
| XM_011536230.1:c.128-2664A>G | XP_011534532.1:n.128-2664A>G | |
| XR_245556.1:n.234-2664A>G | ||
| XM_006715592.3:c.128-2664A>G | XP_006715655.1:n.128-2664A>G | |
| XM_011536227.2:c.128-2664A>G | XP_011534529.1:n.128-2664A>G | |
| XM_011536230.2:c.128-2664A>G | XP_011534532.1:n.128-2664A>G | |
| NM_003898.4:c.128-2664A>G MANE Select | NP_003889.1:n.128-2664A>G |