ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61861643 (AMR)
Genomes Max Group AF
0.56501607 (SAS)
Exomes Max Group AF
0.64434586 (AMR)
MyVariant.info:
GRCh38
chr11:g.66560624C>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560624C>T , CM000673.2:g.66560624C>T | GRCh38 |
| NG_013304.2:g.18705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1729C>T MANE Select | ENSP00000426797.1:p.Arg577Ter | |
| ENST00000502692.5:c.1858C>T | ENSP00000422007.1:p.Arg620Ter | |
| ENST00000513398.1:c.1729C>T | ENSP00000426797.1:p.Arg577Ter | |
| NM_001104.3:c.1729C>T | NP_001095.2:p.Arg577Ter | |
| NM_001258371.2:c.1858C>T | NP_001245300.2:p.Arg620Ter | |
| NM_001104.4:c.1729C>T MANE Select | NP_001095.2:p.Arg577Ter | |
| NM_001258371.3:c.1858C>T | NP_001245300.2:p.Arg620Ter |