gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001648 (NFE)
Exomes Max Group AF
0.00001749 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750948G>A , CM000684.2:g.27750948G>A | GRCh38 |
| NC_000022.10:g.28146936G>A , CM000684.1:g.28146936G>A | GRCh37 |
| NC_000022.9:g.26476936G>A | NCBI36 |
| NG_023258.1:g.55551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.455C>T | ||
| ENST00000302326.5:c.3930C>T MANE Select | ENSP00000304956.4:p.Asn1310= | |
| ENST00000302326.4:c.3930C>T | ENSP00000304956.4:p.Asn1310= | |
| ENST00000424656.1:c.283C>T | ||
| ENST00000497225.1:n.286C>T | ||
| NM_002430.2:c.3930C>T | NP_002421.3:p.Asn1310= | |
| NM_002430.3:c.3930C>T MANE Select | NP_002421.3:p.Asn1310= |