ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00185715 (AFR)
Genomes Max Group AF
0.00189198 (AFR)
Exomes Max Group AF
0.00155933 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517870G>C , CM000669.2:g.92517870G>C | GRCh38 |
| NC_000007.13:g.92147184G>C , CM000669.1:g.92147184G>C | GRCh37 |
| NC_000007.12:g.91985120G>C | NCBI36 |
| NG_008341.1:g.15662C>G | |
| NG_008341.2:g.15662C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.645C>G MANE Select | ENSP00000248633.4:p.Thr215= | |
| ENST00000248633.8:c.645C>G | ENSP00000248633.4:p.Thr215= | |
| ENST00000428214.5:c.645C>G | ENSP00000394413.1:p.Thr215= | |
| ENST00000438045.5:c.274-3903C>G | ENSP00000410438.1:n.274-3903C>G | |
| ENST00000484913.5:n.684C>G | ||
| NM_000466.2:c.645C>G | NP_000457.1:p.Thr215= | |
| NM_001282677.1:c.645C>G | NP_001269606.1:p.Thr215= | |
| NM_001282678.1:c.21C>G | NP_001269607.1:p.Thr7= | |
| XR_242246.3:n.741C>G | ||
| XR_242246.5:n.692C>G | ||
| NM_000466.3:c.645C>G MANE Select | NP_000457.1:p.Thr215= | |
| NM_001282677.2:c.645C>G | NP_001269606.1:p.Thr215= | |
| NM_001282678.2:c.21C>G | NP_001269607.1:p.Thr7= |