gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241497918G>C , CM000663.2:g.241497918G>C | GRCh38 |
| NC_000001.10:g.241661218G>C , CM000663.1:g.241661218G>C | GRCh37 |
| NC_000001.9:g.239727841G>C | NCBI36 |
| NG_012338.1:g.26837C>G , LRG_504:g.26837C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1946C>G | ||
| ENST00000682162.1:c.1472C>G | ENSP00000508203.1:n.1472C>G | |
| ENST00000682567.1:n.4843C>G | ||
| ENST00000684161.1:n.2658C>G | ||
| ENST00000684483.1:c.*839C>G | ENSP00000507894.1:n.*839C>G | |
| ENST00000366560.4:c.1443C>G MANE Select | ENSP00000355518.4:p.Thr481= | |
| ENST00000366560.3:c.1443C>G | ENSP00000355518.3:p.Thr481= | |
| NM_000143.3:c.1443C>G , LRG_504t1:c.1443C>G | NP_000134.2:p.Thr481= | |
| XM_011544132.1:c.1215C>G | XP_011542434.1:p.Thr405= | |
| XM_011544132.2:c.1215C>G | XP_011542434.1:p.Thr405= | |
| NM_000143.4:c.1443C>G MANE Select | NP_000134.2:p.Thr481= |