ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002584 (NFE)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00002116 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45904831C>T , CM000682.2:g.45904831C>T | GRCh38 |
| NC_000020.10:g.44533470C>T , CM000682.1:g.44533470C>T | GRCh37 |
| NC_000020.9:g.43966877C>T | NCBI36 |
| NG_012115.1:g.12317G>A | |
| NG_012115.2:g.12317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372431.8:c.911G>A MANE Select | ENSP00000361508.3:p.Arg304Lys | |
| ENST00000354050.8:c.755G>A | ENSP00000335290.4:p.Arg252Lys | |
| ENST00000372420.5:c.647G>A | ENSP00000361497.1:p.Arg216Lys | |
| ENST00000372431.7:c.911G>A | ENSP00000361508.3:p.Arg304Lys | |
| ENST00000420868.2:c.626G>A | ENSP00000411671.2:p.Arg209Lys | |
| ENST00000477313.5:c.911G>A | ENSP00000417138.1:p.Arg304Lys | |
| NM_001242920.1:c.626G>A | NP_001229849.1:p.Arg209Lys | |
| NM_001242921.1:c.647G>A | NP_001229850.1:p.Arg216Lys | |
| NM_006227.3:c.911G>A | NP_006218.1:p.Arg304Lys | |
| NM_182676.2:c.755G>A | NP_872617.1:p.Arg252Lys | |
| NM_006227.4:c.911G>A MANE Select | NP_006218.1:p.Arg304Lys | |
| NM_001242920.2:c.626G>A | NP_001229849.1:p.Arg209Lys | |
| NM_182676.3:c.755G>A | NP_872617.1:p.Arg252Lys |