gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5663228T>A , CM000666.2:g.5663228T>A | GRCh38 |
| NC_000004.11:g.5664955T>A , CM000666.1:g.5664955T>A | GRCh37 |
| NC_000004.10:g.5715856T>A | NCBI36 |
| NG_015821.1:g.51321A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1024A>T MANE Select | ENSP00000342144.5:p.Lys342Ter | |
| ENST00000310917.6:c.784A>T | ENSP00000311683.2:p.Lys262Ter | |
| ENST00000344408.9:c.1024A>T | ENSP00000342144.5:p.Lys342Ter | |
| ENST00000475313.5:c.784A>T | ENSP00000431981.1:p.Lys262Ter | |
| ENST00000509670.1:c.784A>T | ENSP00000423876.1:p.Lys262Ter | |
| NM_001166136.1:c.784A>T | NP_001159608.1:p.Lys262Ter | |
| NM_147127.4:c.1024A>T | NP_667338.3:p.Lys342Ter | |
| XM_011513392.1:c.1024A>T | XP_011511694.1:p.Lys342Ter | |
| XM_011513393.1:c.1024A>T | XP_011511695.1:p.Lys342Ter | |
| XM_011513394.1:c.784A>T | XP_011511696.1:p.Lys262Ter | |
| XM_017007736.1:c.784A>T | XP_016863225.1:p.Lys262Ter | |
| XM_017007737.1:c.784A>T | XP_016863226.1:p.Lys262Ter | |
| XM_017007738.1:c.1024A>T | XP_016863227.1:p.Lys342Ter | |
| XM_017007739.1:c.-649A>T | XP_016863228.1:n.-649A>T | |
| XM_024453893.1:c.-753A>T | XP_024309661.1:n.-753A>T | |
| XR_001741141.1:n.1089A>T | ||
| NM_147127.5:c.1024A>T MANE Select | NP_667338.3:p.Lys342Ter | |
| NM_001166136.2:c.784A>T | NP_001159608.1:p.Lys262Ter |