gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005804 (EAS)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00006532 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61073136C>T , CM000667.2:g.61073136C>T | GRCh38 |
| NC_000005.9:g.60368963C>T , CM000667.1:g.60368963C>T | GRCh37 |
| NC_000005.8:g.60404720C>T | NCBI36 |
| NG_008978.1:g.133008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296597.10:c.139C>T MANE Select | ENSP00000296597.5:p.Arg47Ter | |
| ENST00000677756.1:c.*155C>T | ENSP00000503642.1:n.*155C>T | |
| ENST00000677932.1:c.139C>T | ENSP00000504750.1:p.Arg47Ter | |
| ENST00000678452.1:c.185C>T | ENSP00000504248.1:p.Ser62Leu | |
| ENST00000296597.9:c.139C>T | ENSP00000296597.5:p.Arg47Ter | |
| ENST00000502658.1:c.60C>T | ||
| ENST00000511107.1:c.174-25856C>T | ENSP00000423377.1:n.174-25856C>T | |
| ENST00000512623.1:n.177C>T | ||
| NM_174889.4:c.139C>T | NP_777549.1:p.Arg47Ter | |
| NM_174889.5:c.139C>T MANE Select | NP_777549.1:p.Arg47Ter |