gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031013 (AFR)
Genomes Max Group AF
0.00022237 (AFR)
Exomes Max Group AF
0.0003227 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012465C>T , CM000681.2:g.41012465C>T | GRCh38 |
| NC_000019.9:g.41518370C>T , CM000681.1:g.41518370C>T | GRCh37 |
| NC_000019.8:g.46210210C>T | NCBI36 |
| NG_007929.1:g.26167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1132C>T MANE Select | ENSP00000324648.2:p.Arg378Ter | |
| ENST00000598834.2:c.1156C>T | ||
| ENST00000324071.8:c.1132C>T | ENSP00000324648.2:p.Arg378Ter | |
| ENST00000593831.1:c.424C>T | ENSP00000470582.1:p.Arg142Ter | |
| ENST00000597612.1:n.627C>T | ||
| NM_000767.4:c.1132C>T | NP_000758.1:p.Arg378Ter | |
| XM_005258569.3:c.1132C>T | XP_005258626.1:p.Arg378Ter | |
| XM_006723050.2:c.1132C>T | XP_006723113.1:p.Arg378Ter | |
| XM_011526546.1:c.1132C>T | XP_011524848.1:p.Arg378Ter | |
| XM_011526547.1:c.1132C>T | XP_011524849.1:p.Arg378Ter | |
| XM_011526548.1:c.652C>T | XP_011524850.1:p.Arg218Ter | |
| XM_011526549.1:c.541C>T | XP_011524851.1:p.Arg181Ter | |
| XM_011526550.1:c.532C>T | XP_011524852.1:p.Arg178Ter | |
| NM_000767.5:c.1132C>T MANE Select | NP_000758.1:p.Arg378Ter |