gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00061418 (NFE)
Genomes Max Group AF
0.00032946 (NFE)
Exomes Max Group AF
0.00062477 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420420C>T , CM000669.2:g.94420420C>T | GRCh38 |
| NC_000007.13:g.94049732C>T , CM000669.1:g.94049732C>T | GRCh37 |
| NC_000007.12:g.93887668C>T | NCBI36 |
| NG_007405.1:g.30860C>T , LRG_2:g.30860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2163C>T MANE Select | ENSP00000297268.6:p.Gly721= | |
| ENST00000297268.10:c.2163C>T | ENSP00000297268.6:p.Gly721= | |
| ENST00000461525.5:n.252C>T | ||
| ENST00000467931.1:n.183C>T | ||
| ENST00000473573.5:n.500C>T | ||
| ENST00000497316.5:n.560C>T | ||
| ENST00000620463.1:c.2157C>T | ENSP00000477719.1:p.Gly719= | |
| NM_000089.3:c.2163C>T , LRG_2t1:c.2163C>T | NP_000080.2:p.Gly721= | |
| NM_000089.4:c.2163C>T MANE Select | NP_000080.2:p.Gly721= |