gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67395837C>G , CM000663.2:g.67395837C>G | GRCh38 |
| NC_000001.10:g.67861520C>G , CM000663.1:g.67861520C>G | GRCh37 |
| NC_000001.9:g.67634108C>G | NCBI36 |
| NG_032977.1:g.93474C>G | |
| NG_032977.2:g.93487C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696754.1:c.*238C>G | ENSP00000512852.1:n.*238C>G | |
| ENST00000696755.1:c.*238C>G | ENSP00000512853.1:n.*238C>G | |
| ENST00000696757.1:c.*257C>G | ENSP00000512854.1:n.*257C>G | |
| ENST00000696758.1:c.*1434C>G | ENSP00000512855.1:n.*1434C>G | |
| ENST00000696759.1:c.*374C>G | ENSP00000512856.1:n.*374C>G | |
| ENST00000696763.1:n.1329C>G | ||
| ENST00000541374.6:c.*238C>G | ENSP00000445276.3:n.*238C>G | |
| ENST00000648487.1:c.2337C>G | ENSP00000497959.1:p.Pro779= | |
| ENST00000674203.2:c.2337C>G MANE Select | ENSP00000501329.1:p.Pro779= | |
| ENST00000262345.5:c.2337C>G | ENSP00000262345.1:p.Pro779= | |
| ENST00000541374.5:c.*238C>G | ENSP00000445276.2:n.*238C>G | |
| ENST00000544434.5:c.2079C>G | ENSP00000442443.1:p.Pro693= | |
| NM_001258214.1:c.*257C>G | NP_001245143.1:n.*257C>G | |
| NM_001258215.1:c.2079C>G | NP_001245144.1:p.Pro693= | |
| NM_001258216.1:c.*238C>G | NP_001245145.1:n.*238C>G | |
| NM_001559.2:c.2337C>G | NP_001550.1:p.Pro779= | |
| NR_047583.1:n.2727C>G | ||
| NR_047584.1:n.3070C>G | ||
| XM_005270825.1:c.2337C>G | XP_005270882.1:p.Pro779= | |
| XM_005270827.1:c.2337C>G | XP_005270884.1:p.Pro779= | |
| XM_005270828.2:c.2337C>G | XP_005270885.1:p.Pro779= | |
| XM_006710617.1:c.2079C>G | XP_006710680.1:p.Pro693= | |
| XM_011541383.1:c.2337C>G | XP_011539685.1:p.Pro779= | |
| XM_011541384.1:c.2178C>G | XP_011539686.1:p.Pro726= | |
| XM_011541385.1:c.*257C>G | XP_011539687.1:n.*257C>G | |
| NM_001319233.1:c.*257C>G | NP_001306162.1:n.*257C>G | |
| XM_005270825.2:c.2337C>G | XP_005270882.1:p.Pro779= | |
| XM_005270827.2:c.2337C>G | XP_005270884.1:p.Pro779= | |
| XM_005270828.3:c.2337C>G | XP_005270885.1:p.Pro779= | |
| XM_006710617.2:c.2079C>G | XP_006710680.1:p.Pro693= | |
| XM_011541383.2:c.2337C>G | XP_011539685.1:p.Pro779= | |
| XM_011541384.2:c.2178C>G | XP_011539686.1:p.Pro726= | |
| XM_017001203.1:c.*257C>G | XP_016856692.1:n.*257C>G | |
| NM_001374259.2:c.2337C>G MANE Select | NP_001361188.1:p.Pro779= | |
| NM_001559.3:c.2337C>G | NP_001550.1:p.Pro779= |