gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005788 (EAS)
Genomes Max Group AF
0.00026303 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89214900G>A , CM000672.2:g.89214900G>A | GRCh38 |
| NC_000010.10:g.90974657G>A , CM000672.1:g.90974657G>A | GRCh37 |
| NC_000010.9:g.90964637G>A | NCBI36 |
| NG_008194.1:g.42004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.1128C>T MANE Select | ENSP00000337354.5:p.Asp376= | |
| ENST00000336233.9:c.1128C>T | ENSP00000337354.5:p.Asp376= | |
| ENST00000371837.5:c.960C>T | ENSP00000360903.1:p.Asp320= | |
| ENST00000456827.5:c.780C>T | ENSP00000413019.2:p.Asp260= | |
| NM_000235.3:c.1128C>T | NP_000226.2:p.Asp376= | |
| NM_001127605.2:c.1128C>T | NP_001121077.1:p.Asp376= | |
| NM_001288979.1:c.780C>T | NP_001275908.1:p.Asp260= | |
| XM_024448023.1:c.1128C>T | XP_024303791.1:p.Asp376= | |
| NM_000235.4:c.1128C>T MANE Select | NP_000226.2:p.Asp376= | |
| NM_001127605.3:c.1128C>T | NP_001121077.1:p.Asp376= | |
| NM_001288979.2:c.780C>T | NP_001275908.1:p.Asp260= |