gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00085377 (NFE)
Genomes Max Group AF
0.00076834 (NFE)
Exomes Max Group AF
0.00084936 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25815568C>T , CM000663.2:g.25815568C>T | GRCh38 |
| NC_000001.10:g.26142059C>T , CM000663.1:g.26142059C>T | GRCh37 |
| NC_000001.9:g.26014646C>T | NCBI36 |
| NG_009930.1:g.20393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.1452C>T | ENSP00000346109.5:p.Asn484= | |
| ENST00000494537.2:c.1610C>T | ENSP00000508308.1:n.1610C>T | |
| ENST00000361547.7:c.1623C>T MANE Select | ENSP00000355141.2:p.Asn541= | |
| ENST00000354177.8:c.1521C>T | ENSP00000346109.4:p.Asn507= | |
| ENST00000361547.6:c.1623C>T | ENSP00000355141.2:p.Asn541= | |
| ENST00000374315.1:c.1521C>T | ENSP00000363434.1:p.Asn507= | |
| ENST00000494537.1:n.390C>T | ||
| ENST00000527604.1:c.123+1390C>T | ENSP00000457066.1:n.123+1390C>T | |
| ENST00000559265.1:n.255+3689C>T | ||
| ENST00000630065.2:c.51C>T | ENSP00000487549.1:p.Asn17= | |
| NM_020451.2:c.1623C>T | NP_065184.2:p.Asn541= | |
| NM_206926.1:c.1521C>T | NP_996809.1:p.Asn507= | |
| NM_020451.3:c.1623C>T MANE Select | NP_065184.2:p.Asn541= | |
| NM_206926.2:c.1521C>T | NP_996809.1:p.Asn507= |