gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00071636 (NFE)
Genomes Max Group AF
0.00040497 (NFE)
Exomes Max Group AF
0.00072783 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26421396C>T , CM000664.2:g.26421396C>T | GRCh38 |
| NC_000002.11:g.26644264C>T , CM000664.1:g.26644264C>T | GRCh37 |
| NC_000002.10:g.26497768C>T | NCBI36 |
| NG_042824.1:g.24485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.352C>T MANE Select | ENSP00000288710.2:p.Gln118Ter | |
| ENST00000649059.1:c.338C>T | ||
| ENST00000288710.6:c.352C>T | ENSP00000288710.2:p.Gln118Ter | |
| ENST00000421869.5:c.352C>T | ENSP00000414375.1:p.Gln118Ter | |
| ENST00000487307.5:n.243C>T | ||
| ENST00000497651.1:n.242C>T | ||
| NM_145038.3:c.352C>T | NP_659475.2:p.Gln118Ter | |
| NM_145038.4:c.352C>T | NP_659475.2:p.Gln118Ter | |
| XM_005264637.3:c.-83C>T | XP_005264694.1:n.-83C>T | |
| XM_005264638.3:c.-345C>T | XP_005264695.1:n.-345C>T | |
| XM_017005271.1:c.-529C>T | XP_016860760.1:n.-529C>T | |
| XM_024453218.1:c.-345C>T | XP_024308986.1:n.-345C>T | |
| NM_145038.5:c.352C>T MANE Select | NP_659475.2:p.Gln118Ter |