gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000455 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044825G>A , CM000663.2:g.17044825G>A | GRCh38 |
| NC_000001.10:g.17371320G>A , CM000663.1:g.17371320G>A | GRCh37 |
| NC_000001.9:g.17243907G>A | NCBI36 |
| NG_012340.1:g.14346C>T , LRG_316:g.14346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-36C>T | ENSP00000481376.2:n.-36C>T | |
| ENST00000491274.6:c.94C>T | ENSP00000480482.2:p.Arg32Ter | |
| ENST00000375499.8:c.136C>T MANE Select | ENSP00000364649.3:p.Arg46Ter | |
| ENST00000375499.7:c.136C>T | ENSP00000364649.3:p.Arg46Ter | |
| ENST00000463045.2:c.-36C>T | ENSP00000481376.1:n.-36C>T | |
| ENST00000466613.2:n.148C>T | ||
| ENST00000475506.1:n.53C>T | ||
| ENST00000485515.5:n.124C>T | ||
| ENST00000491274.5:c.94C>T | ENSP00000480482.1:p.Arg32Ter | |
| NM_003000.2:c.136C>T , LRG_316t1:c.136C>T | NP_002991.2:p.Arg46Ter | |
| NM_003000.3:c.136C>T MANE Select | NP_002991.2:p.Arg46Ter |