gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00260101 (AFR)
Genomes Max Group AF
0.00246624 (AFR)
Exomes Max Group AF
0.00248545 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55046549C>G , CM000663.2:g.55046549C>G | GRCh38 |
| NC_000001.10:g.55512222C>G , CM000663.1:g.55512222C>G | GRCh37 |
| NC_000001.9:g.55284810C>G | NCBI36 |
| NG_009061.1:g.12003C>G , LRG_275:g.12003C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.426C>G | ENSP00000501161.2:p.Tyr142Ter | |
| ENST00000710286.1:c.783C>G | ENSP00000518176.1:p.Tyr261Ter | |
| ENST00000673662.1:n.96C>G | ||
| ENST00000673726.1:c.426C>G | ENSP00000501004.1:p.Tyr142Ter | |
| ENST00000673903.1:c.51C>G | ENSP00000501257.1:p.Tyr17Ter | |
| ENST00000302118.5:c.426C>G MANE Select | ENSP00000303208.5:p.Tyr142Ter | |
| NM_174936.3:c.426C>G , LRG_275t1:c.426C>G | NP_777596.2:p.Tyr142Ter | |
| NR_110451.1:n.183-5729C>G | ||
| NM_174936.4:c.426C>G MANE Select | NP_777596.2:p.Tyr142Ter | |
| NR_110451.2:n.183-5729C>G |