gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47442754 (SAS)
Genomes Max Group AF
0.47442754 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177540075A>G , CM000664.2:g.177540075A>G | GRCh38 |
| NC_000002.11:g.178404803A>G , CM000664.1:g.178404803A>G | GRCh37 |
| NC_000002.10:g.178113049A>G | NCBI36 |
| NG_008968.1:g.152333A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.*1880A>G MANE Select | ENSP00000264167.4:n.*1880A>G | |
| ENST00000637633.2:c.1855+16270A>G | ENSP00000490844.2:n.1855+16270A>G | |
| ENST00000642466.2:c.1856-11288A>G | ENSP00000494433.2:n.1856-11288A>G | |
| ENST00000679421.1:n.5086A>G | ||
| ENST00000679459.1:c.1855+16270A>G | ENSP00000506137.1:n.1855+16270A>G | |
| ENST00000679478.1:c.*1880A>G | ENSP00000506484.1:n.*1880A>G | |
| ENST00000679994.1:c.*1880A>G | ENSP00000504957.1:n.*1880A>G | |
| ENST00000680028.1:n.5221A>G | ||
| ENST00000680155.1:c.*1880A>G | ENSP00000505333.1:n.*1880A>G | |
| ENST00000680893.1:c.*3105A>G | ENSP00000505929.1:n.*3105A>G | |
| ENST00000681032.1:c.*3235A>G | ENSP00000505205.1:n.*3235A>G | |
| ENST00000681565.1:c.*2990A>G | ENSP00000505620.1:n.*2990A>G | |
| ENST00000681752.1:c.*3627A>G | ENSP00000504994.1:n.*3627A>G | |
| ENST00000681891.1:n.7492A>G | ||
| ENST00000264167.8:c.*1880A>G | ENSP00000264167.4:n.*1880A>G | |
| NM_003659.3:c.*1880A>G | NP_003650.1:n.*1880A>G | |
| XM_011512041.1:c.*1880A>G | XP_011510343.1:n.*1880A>G | |
| XM_011512042.1:c.*1880A>G | XP_011510344.1:n.*1880A>G | |
| XM_011512043.1:c.*1880A>G | XP_011510345.1:n.*1880A>G | |
| XM_011512041.2:c.*1880A>G | XP_011510343.1:n.*1880A>G | |
| XM_011512043.2:c.*1880A>G | XP_011510345.1:n.*1880A>G | |
| XR_001739007.2:n.3765A>G | ||
| NM_003659.4:c.*1880A>G MANE Select | NP_003650.1:n.*1880A>G |