gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008959 (NFE)
Genomes Max Group AF
0.00001997 (NFE)
Exomes Max Group AF
0.00009147 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303816C>A , CM000669.2:g.76303816C>A | GRCh38 |
| NC_000007.13:g.75933133C>A , CM000669.1:g.75933133C>A | GRCh37 |
| NC_000007.12:g.75771069C>A | NCBI36 |
| NG_008995.1:g.6259C>A , LRG_248:g.6259C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.379C>A MANE Select | ENSP00000248553.6:p.Arg127= | |
| ENST00000674547.1:c.379C>A | ENSP00000502461.1:p.Arg127= | |
| ENST00000674638.1:c.374C>A | ENSP00000502651.1:p.Ala125Glu | |
| ENST00000674650.1:c.365-168C>A | ENSP00000501628.1:n.365-168C>A | |
| ENST00000674965.1:c.*35C>A | ENSP00000501765.1:n.*35C>A | |
| ENST00000675134.1:c.379C>A | ENSP00000501831.1:p.Arg127= | |
| ENST00000675226.1:c.378C>A | ENSP00000502510.1:p.Ser126Arg | |
| ENST00000675417.1:n.612C>A | ||
| ENST00000675538.1:c.414C>A | ENSP00000502495.1:p.Ser138Arg | |
| ENST00000675906.1:c.379C>A | ENSP00000502714.1:p.Arg127= | |
| ENST00000676195.1:n.95C>A | ||
| ENST00000676231.1:c.409C>A | ENSP00000502249.1:p.Arg137= | |
| ENST00000248553.6:c.379C>A | ENSP00000248553.6:p.Arg127= | |
| ENST00000429938.1:c.-126C>A | ENSP00000405285.1:n.-126C>A | |
| ENST00000447574.1:c.*543C>A | ENSP00000414357.1:n.*543C>A | |
| NM_001540.3:c.379C>A , LRG_248t1:c.379C>A | NP_001531.1:p.Arg127= | |
| NM_001540.4:c.379C>A | NP_001531.1:p.Arg127= | |
| NM_001540.5:c.379C>A MANE Select | NP_001531.1:p.Arg127= |