gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00285341 (SAS)
Genomes Max Group AF
0.00127822 (SAS)
Exomes Max Group AF
0.00289196 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179234142C>T , CM000665.2:g.179234142C>T | GRCh38 |
| NC_000003.11:g.178951930C>T , CM000665.1:g.178951930C>T | GRCh37 |
| NC_000003.10:g.180434624C>T | NCBI36 |
| NG_012113.2:g.90620C>T , LRG_310:g.90620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.2985C>T MANE Select | ENSP00000263967.3:p.Ala995= | |
| ENST00000462255.2:n.2008C>T | ||
| ENST00000643187.1:c.*65C>T | ENSP00000493507.1:n.*65C>T | |
| ENST00000674534.1:n.3893C>T | ||
| ENST00000674622.1:c.1406C>T | ENSP00000502417.1:n.1406C>T | |
| ENST00000675467.1:n.5792C>T | ||
| ENST00000675786.1:c.*1552C>T | ENSP00000502323.1:n.*1552C>T | |
| ENST00000675796.1:n.2880C>T | ||
| ENST00000263967.3:c.2985C>T | ENSP00000263967.3:p.Ala995= | |
| NM_006218.2:c.2985C>T , LRG_310t1:c.2985C>T | NP_006209.2:p.Ala995= | |
| XM_006713658.2:c.2985C>T | XP_006713721.1:p.Ala995= | |
| XM_011512894.1:c.2985C>T | XP_011511196.1:p.Ala995= | |
| NM_006218.3:c.2985C>T | NP_006209.2:p.Ala995= | |
| XM_006713658.4:c.2985C>T | XP_006713721.1:p.Ala995= | |
| XM_011512894.2:c.2985C>T | XP_011511196.1:p.Ala995= | |
| NM_006218.4:c.2985C>T MANE Select | NP_006209.2:p.Ala995= |