gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00877994 (MID)
Genomes Max Group AF
0.00257795 (SAS)
Exomes Max Group AF
0.00891609 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830637C>T , CM000673.2:g.116830637C>T | GRCh38 |
| NC_000011.9:g.116701353C>T , CM000673.1:g.116701353C>T | GRCh37 |
| NC_000011.8:g.116206563C>T | NCBI36 |
| NG_008949.1:g.5730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.55C>T MANE Select | ENSP00000227667.2:p.Arg19Ter | |
| ENST00000227667.7:c.55C>T | ENSP00000227667.2:p.Arg19Ter | |
| ENST00000375345.3:c.109C>T | ENSP00000364494.1:p.Arg37Ter | |
| ENST00000433777.5:c.55C>T | ENSP00000410614.1:p.Arg19Ter | |
| ENST00000470144.1:n.87C>T | ||
| ENST00000630701.1:c.109C>T | ENSP00000486182.1:p.Arg37Ter | |
| NM_000040.1:c.55C>T | NP_000031.1:p.Arg19Ter | |
| NM_000040.2:c.55C>T | NP_000031.1:p.Arg19Ter | |
| NM_000040.3:c.55C>T MANE Select | NP_000031.1:p.Arg19Ter |