gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002585 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00002743 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150928016G>A , CM000665.2:g.150928016G>A | GRCh38 |
| NC_000003.11:g.150645803G>A , CM000665.1:g.150645803G>A | GRCh37 |
| NC_000003.10:g.152128493G>A | NCBI36 |
| NG_009168.1:g.49984C>T , LRG_700:g.49984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.619C>T MANE Select | ENSP00000322280.1:p.Arg207Ter | |
| ENST00000295911.6:c.342+49C>T | ENSP00000295911.2:n.342+49C>T | |
| ENST00000327047.5:c.619C>T | ENSP00000322280.1:p.Arg207Ter | |
| ENST00000328863.8:c.658C>T | ENSP00000329158.4:p.Arg220Ter | |
| ENST00000562308.5:c.104+13566C>T | ||
| ENST00000565169.1:c.162+13566C>T | ||
| ENST00000569170.5:c.162+13566C>T | ||
| NM_001195794.1:c.658C>T , LRG_700t1:c.658C>T | NP_001182723.1:p.Arg220Ter | |
| NM_001256819.1:c.*233C>T | NP_001243748.1:n.*233C>T | |
| NM_052995.2:c.342+49C>T , LRG_700t2:c.342+49C>T | NP_443721.1:n.342+49C>T | |
| NM_174878.2:c.619C>T | NP_777367.1:p.Arg207Ter | |
| NR_046380.2:n.1100C>T | ||
| XR_924167.1:n.931C>T | ||
| NM_001256819.2:c.*233C>T | NP_001243748.1:n.*233C>T | |
| NM_174878.3:c.619C>T MANE Select | NP_777367.1:p.Arg207Ter | |
| NR_046380.3:n.828C>T |