gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50342047G>A , CM000665.2:g.50342047G>A | GRCh38 |
| NC_000003.11:g.50379478G>A , CM000665.1:g.50379478G>A | GRCh37 |
| NC_000003.10:g.50354482G>A | NCBI36 |
| NG_023270.1:g.3890C>T | |
| NG_042828.1:g.8700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.967C>T MANE Select | ENSP00000231749.3:p.Gln323Ter | |
| ENST00000231749.7:c.967C>T | ENSP00000231749.3:p.Gln323Ter | |
| ENST00000360165.7:c.952C>T | ENSP00000353289.3:p.Gln318Ter | |
| ENST00000442887.1:c.838C>T | ENSP00000393687.1:p.Gln280Ter | |
| ENST00000475688.1:n.1122C>T | ||
| ENST00000490675.5:n.53-116C>T | ||
| NM_001308379.1:c.952C>T | NP_001295308.1:p.Gln318Ter | |
| NM_015896.2:c.967C>T | NP_056980.2:p.Gln323Ter | |
| NM_015896.3:c.967C>T | NP_056980.2:p.Gln323Ter | |
| XM_005265216.2:c.730C>T | XP_005265273.1:p.Gln244Ter | |
| XM_005265216.3:c.730C>T | XP_005265273.1:p.Gln244Ter | |
| NM_015896.4:c.967C>T MANE Select | NP_056980.2:p.Gln323Ter | |
| NM_001308379.2:c.952C>T | NP_001295308.1:p.Gln318Ter |