gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220126827G>A , CM000663.2:g.220126827G>A | GRCh38 |
| NC_000001.10:g.220300169G>A , CM000663.1:g.220300169G>A | GRCh37 |
| NC_000001.9:g.218366792G>A | NCBI36 |
| NG_041799.1:g.37715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366922.3:c.1821G>A MANE Select | ENSP00000355889.2:p.Trp607Ter | |
| ENST00000366922.2:c.1821G>A | ENSP00000355889.2:p.Trp607Ter | |
| ENST00000490891.1:n.205G>A | ||
| NM_018060.3:c.1821G>A | NP_060530.3:p.Trp607Ter | |
| NM_018060.4:c.1821G>A MANE Select | NP_060530.3:p.Trp607Ter |