gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.9890687G>T , CM000666.2:g.9890687G>T | GRCh38 |
| NC_000004.11:g.9892311G>T , CM000666.1:g.9892311G>T | GRCh37 |
| NC_000004.10:g.9501409G>T | NCBI36 |
| NG_011540.1:g.154562C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264784.8:c.1138C>A MANE Select | ENSP00000264784.3:p.Arg380= | |
| ENST00000264784.7:c.1138C>A | ENSP00000264784.3:p.Arg380= | |
| ENST00000309065.7:c.1051C>A | ENSP00000311383.3:p.Arg351= | |
| ENST00000503280.5:n.111+17548C>A | ||
| ENST00000505104.5:n.1172C>A | ||
| ENST00000506583.5:c.1051C>A | ENSP00000422209.1:p.Arg351= | |
| NM_001001290.1:c.1051C>A | NP_001001290.1:p.Arg351= | |
| NM_020041.2:c.1138C>A | NP_064425.2:p.Arg380= | |
| XM_006713968.2:c.1138C>A | XP_006714031.1:p.Arg380= | |
| XM_006713969.2:c.1051C>A | XP_006714032.1:p.Arg351= | |
| XM_011513856.1:c.1138C>A | XP_011512158.1:p.Arg380= | |
| XM_011513857.1:c.1051C>A | XP_011512159.1:p.Arg351= | |
| XM_011513858.1:c.1051C>A | XP_011512160.1:p.Arg351= | |
| XM_011513859.1:c.1138C>A | XP_011512161.1:p.Arg380= | |
| XM_011513860.1:c.1138C>A | XP_011512162.1:p.Arg380= | |
| XM_011513861.1:c.1138C>A | XP_011512163.1:p.Arg380= | |
| XM_011513862.1:c.742C>A | XP_011512164.1:p.Arg248= | |
| XM_011513863.1:c.742C>A | XP_011512165.1:p.Arg248= | |
| XM_011513864.1:c.730C>A | XP_011512166.1:p.Arg244= | |
| XM_011513865.1:c.1138C>A | XP_011512167.1:p.Arg380= | |
| XM_011513866.1:c.1138C>A | XP_011512168.1:p.Arg380= | |
| XM_011513867.1:c.580C>A | XP_011512169.1:p.Arg194= | |
| XR_925341.1:n.1234C>A | ||
| XM_006713968.4:c.1138C>A | XP_006714031.1:p.Arg380= | |
| XM_011513856.3:c.1138C>A | XP_011512158.1:p.Arg380= | |
| XM_011513859.3:c.1138C>A | XP_011512161.1:p.Arg380= | |
| XM_011513860.3:c.1138C>A | XP_011512162.1:p.Arg380= | |
| XM_011513861.3:c.1138C>A | XP_011512163.1:p.Arg380= | |
| XM_011513862.3:c.742C>A | XP_011512164.1:p.Arg248= | |
| XM_011513864.2:c.730C>A | XP_011512166.1:p.Arg244= | |
| XM_011513865.2:c.1138C>A | XP_011512167.1:p.Arg380= | |
| XM_011513866.2:c.1138C>A | XP_011512168.1:p.Arg380= | |
| XM_011513867.3:c.580C>A | XP_011512169.1:p.Arg194= | |
| XM_017008457.2:c.1138C>A | XP_016863946.1:p.Arg380= | |
| XM_017008458.2:c.1138C>A | XP_016863947.1:p.Arg380= | |
| XM_017008459.1:c.676C>A | XP_016863948.1:p.Arg226= | |
| XM_017008460.2:c.742C>A | XP_016863949.1:p.Arg248= | |
| XM_024454150.1:c.1138C>A | XP_024309918.1:p.Arg380= | |
| XM_024454151.1:c.751C>A | XP_024309919.1:p.Arg251= | |
| XM_024454152.1:c.1138C>A | XP_024309920.1:p.Arg380= | |
| XM_024454153.1:c.1138C>A | XP_024309921.1:p.Arg380= | |
| XR_001741290.1:n.1286+17548C>A | ||
| XR_001741291.1:n.1286+17548C>A | ||
| XR_925341.3:n.1315C>A | ||
| NM_020041.3:c.1138C>A MANE Select | NP_064425.2:p.Arg380= | |
| NM_001001290.2:c.1051C>A | NP_001001290.1:p.Arg351= |