ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM1562687
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38389907 (AFR)
Genomes Max Group AF
0.37832047 (AFR)
Exomes Max Group AF
0.38736675 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429785G>A , CM000676.2:g.23429785G>A | GRCh38 |
| NC_000014.8:g.23898994G>A , CM000676.1:g.23898994G>A | GRCh37 |
| NC_000014.7:g.22968834G>A | NCBI36 |
| NG_007884.1:g.10877C>T , LRG_384:g.10877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1128C>T MANE Select | ENSP00000347507.3:p.Asp376= | |
| ENST00000355349.3:c.1128C>T | ENSP00000347507.3:p.Asp376= | |
| NM_000257.3:c.1128C>T | NP_000248.2:p.Asp376= | |
| XR_245686.3:n.1234C>T | ||
| XM_017021340.1:c.1128C>T | XP_016876829.1:p.Asp376= | |
| NM_000257.4:c.1128C>T MANE Select | NP_000248.2:p.Asp376= |