ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001774 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.0000104 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4800500G>A , CM000678.2:g.4800500G>A | GRCh38 |
| NC_000016.9:g.4850501G>A , CM000678.1:g.4850501G>A | GRCh37 |
| NC_000016.8:g.4790502G>A | NCBI36 |
| NG_032174.1:g.7451C>T , LRG_455:g.7451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.334C>T MANE Select | ENSP00000322832.6:p.Gln112Ter | |
| ENST00000322048.11:c.334C>T | ENSP00000322832.5:p.Gln112Ter | |
| ENST00000585653.1:n.466C>T | ||
| ENST00000586153.1:c.79C>T | ENSP00000464699.1:p.Gln27Ter | |
| ENST00000586336.5:n.433C>T | ||
| ENST00000586504.5:c.114C>T | ||
| ENST00000587377.5:c.334C>T | ENSP00000468343.1:p.Gln112Ter | |
| ENST00000587711.5:c.118-1833C>T | ENSP00000467459.1:n.118-1833C>T | |
| ENST00000587843.5:c.*72C>T | ENSP00000465970.1:n.*72C>T | |
| ENST00000588201.5:c.*191C>T | ENSP00000466529.1:n.*191C>T | |
| ENST00000589543.5:n.291C>T | ||
| ENST00000591292.5:n.1663C>T | ||
| ENST00000591392.5:c.262C>T | ENSP00000467509.1:p.Gln88Ter | |
| ENST00000592019.1:c.53C>T | ||
| NM_024589.2:c.334C>T , LRG_455t1:c.334C>T | NP_078865.1:p.Gln112Ter | |
| NR_046480.1:n.658C>T | ||
| XM_006720947.2:c.334C>T | XP_006721010.1:p.Gln112Ter | |
| XM_006720948.2:c.64C>T | XP_006721011.1:p.Gln22Ter | |
| XM_006720947.4:c.334C>T | XP_006721010.1:p.Gln112Ter | |
| XM_006720948.4:c.64C>T | XP_006721011.1:p.Gln22Ter | |
| NM_024589.3:c.334C>T MANE Select | NP_078865.1:p.Gln112Ter | |
| NR_046480.2:n.341C>T |