gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55691512 (NFE)
Genomes Max Group AF
0.5508121 (NFE)
Exomes Max Group AF
0.56175282 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.85025721A>G , CM000671.2:g.85025721A>G | GRCh38 |
| NC_000009.11:g.87640636A>G , CM000671.1:g.87640636A>G | GRCh37 |
| NC_000009.10:g.86830456A>G | NCBI36 |
| NG_012201.2:g.362171A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323115.11:c.*4284A>G | ENSP00000314586.5:n.*4284A>G | |
| ENST00000686259.1:c.*4284A>G | ENSP00000509743.1:n.*4284A>G | |
| ENST00000686324.1:c.*4284A>G | ENSP00000510134.1:n.*4284A>G | |
| ENST00000686496.1:c.*4284A>G | ENSP00000510060.1:n.*4284A>G | |
| ENST00000686874.1:n.4919A>G | ||
| ENST00000687386.1:c.2125-69270A>G | ENSP00000508723.1:n.2125-69270A>G | |
| ENST00000687690.1:n.5066A>G | ||
| ENST00000688978.1:n.5472A>G | ||
| ENST00000689301.1:c.*4284A>G | ENSP00000510766.1:n.*4284A>G | |
| ENST00000690044.1:n.4805A>G | ||
| ENST00000691788.1:c.*4284A>G | ENSP00000509401.1:n.*4284A>G | |
| ENST00000692181.1:c.*4284A>G | ENSP00000510619.1:n.*4284A>G | |
| ENST00000692473.1:c.*4284A>G | ENSP00000509020.1:n.*4284A>G | |
| ENST00000277120.8:c.*4284A>G MANE Select | ENSP00000277120.3:n.*4284A>G | |
| ENST00000323115.10:c.*4284A>G | ENSP00000314586.4:n.*4284A>G | |
| ENST00000376213.6:c.*4284A>G | ENSP00000365386.1:n.*4284A>G | |
| ENST00000277120.7:c.*4284A>G | ENSP00000277120.3:n.*4284A>G | |
| NM_001018064.2:c.*4284A>G | NP_001018074.1:n.*4284A>G | |
| NM_006180.4:c.*4284A>G | NP_006171.2:n.*4284A>G | |
| XM_005252001.1:c.*4284A>G | XP_005252058.1:n.*4284A>G | |
| XM_005252003.1:c.*4284A>G | XP_005252060.1:n.*4284A>G | |
| XM_005252004.1:c.*4284A>G | XP_005252061.1:n.*4284A>G | |
| XM_011518718.1:c.*4284A>G | XP_011517020.1:n.*4284A>G | |
| XM_011518719.1:c.*4284A>G | XP_011517021.1:n.*4284A>G | |
| XM_005252001.3:c.*4284A>G | XP_005252058.1:n.*4284A>G | |
| XM_005252003.3:c.*4284A>G | XP_005252060.1:n.*4284A>G | |
| XM_005252004.2:c.*4284A>G | XP_005252061.1:n.*4284A>G | |
| XM_011518718.3:c.*4284A>G | XP_011517020.1:n.*4284A>G | |
| XM_017014751.2:c.*4284A>G | XP_016870240.1:n.*4284A>G | |
| XM_017014752.1:c.*4284A>G | XP_016870241.1:n.*4284A>G | |
| XM_017014753.2:c.*4284A>G | XP_016870242.1:n.*4284A>G | |
| XM_017014754.1:c.*4284A>G | XP_016870243.1:n.*4284A>G | |
| NM_001018064.3:c.*4284A>G | NP_001018074.1:n.*4284A>G | |
| NM_001369532.1:c.*4284A>G | NP_001356461.1:n.*4284A>G | |
| NM_001369533.1:c.*4284A>G | NP_001356462.1:n.*4284A>G | |
| NM_001369534.1:c.*4284A>G | NP_001356463.1:n.*4284A>G | |
| NM_001369535.1:c.*4284A>G | NP_001356464.1:n.*4284A>G | |
| NM_001369536.1:c.*4284A>G | NP_001356465.1:n.*4284A>G | |
| NM_006180.5:c.*4284A>G | NP_006171.2:n.*4284A>G | |
| NM_006180.6:c.*4284A>G MANE Select | NP_006171.2:n.*4284A>G |