ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00136633 (EAS)
Genomes Max Group AF
0.000769 (EAS)
Exomes Max Group AF
0.0013625 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64746776C>T , CM000673.2:g.64746776C>T | GRCh38 |
| NC_000011.9:g.64514248C>T , CM000673.1:g.64514248C>T | GRCh37 |
| NC_000011.8:g.64270824C>T | NCBI36 |
| NG_007574.1:g.3681G>A , LRG_100:g.3681G>A | |
| NG_013018.1:g.18940G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2412G>A MANE Select | ENSP00000164139.3:p.Arg804= | |
| ENST00000164139.3:c.2412G>A | ENSP00000164139.3:p.Arg804= | |
| ENST00000377432.7:c.2148G>A | ENSP00000366650.3:p.Arg716= | |
| ENST00000483742.1:n.1765G>A | ||
| NM_001164716.1:c.2148G>A | NP_001158188.1:p.Arg716= | |
| NM_005609.2:c.2412G>A | NP_005600.1:p.Arg804= | |
| NM_005609.3:c.2412G>A | NP_005600.1:p.Arg804= | |
| NM_005609.4:c.2412G>A MANE Select | NP_005600.1:p.Arg804= |