gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39726293 (EAS)
Genomes Max Group AF
0.39726293 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97192120C>T , CM000665.2:g.97192120C>T | GRCh38 |
| NC_000003.11:g.96910964C>T , CM000665.1:g.96910964C>T | GRCh37 |
| NC_000003.10:g.98393654C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389672.10:c.1115-34144C>T MANE Select | ENSP00000374323.5:n.1115-34144C>T | |
| ENST00000389672.9:c.1115-34144C>T | ENSP00000374323.5:n.1115-34144C>T | |
| ENST00000470610.6:c.1115-34144C>T | ENSP00000420598.2:n.1115-34144C>T | |
| NM_001080448.2:c.1115-34144C>T | NP_001073917.2:n.1115-34144C>T | |
| XM_006713592.2:c.1115-34144C>T | XP_006713655.1:n.1115-34144C>T | |
| XR_924126.1:n.1158-34144C>T | ||
| NM_001080448.3:c.1115-34144C>T MANE Select | NP_001073917.2:n.1115-34144C>T | |
| XM_006713592.3:c.1115-34144C>T | XP_006713655.1:n.1115-34144C>T | |
| XM_017006210.1:c.1115-34144C>T | XP_016861699.1:n.1115-34144C>T | |
| XM_017006211.1:c.731-34144C>T | XP_016861700.1:n.731-34144C>T | |
| XM_017006212.1:c.713-34144C>T | XP_016861701.1:n.713-34144C>T | |
| XM_017006213.1:c.647-34144C>T | XP_016861702.1:n.647-34144C>T | |
| XM_017006214.1:c.26-34144C>T | XP_016861703.1:n.26-34144C>T | |
| XM_017006219.1:c.1115-34144C>T | XP_016861708.1:n.1115-34144C>T | |
| XR_001740110.1:n.1158-34144C>T | ||
| XR_924126.2:n.1158-34144C>T |