ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006275 (AFR)
Genomes Max Group AF
0.00007908 (AFR)
Exomes Max Group AF
0.00001003 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92513923G>A , CM000669.2:g.92513923G>A | GRCh38 |
| NC_000007.13:g.92143237G>A , CM000669.1:g.92143237G>A | GRCh37 |
| NC_000007.12:g.91981173G>A | NCBI36 |
| NG_008341.1:g.19609C>T | |
| NG_008341.2:g.19609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1284C>T MANE Select | ENSP00000248633.4:p.Ala428= | |
| ENST00000248633.8:c.1284C>T | ENSP00000248633.4:p.Ala428= | |
| ENST00000422866.1:c.185C>T | ||
| ENST00000428214.5:c.1284C>T | ENSP00000394413.1:p.Ala428= | |
| ENST00000438045.5:c.318C>T | ENSP00000410438.1:p.Ala106= | |
| ENST00000476923.1:n.45C>T | ||
| ENST00000484913.5:n.1323C>T | ||
| NM_000466.2:c.1284C>T | NP_000457.1:p.Ala428= | |
| NM_001282677.1:c.1284C>T | NP_001269606.1:p.Ala428= | |
| NM_001282678.1:c.660C>T | NP_001269607.1:p.Ala220= | |
| XR_242246.3:n.1380C>T | ||
| XM_017012319.2:c.-383C>T | XP_016867808.1:n.-383C>T | |
| XR_001744808.2:n.394C>T | ||
| XR_242246.5:n.1331C>T | ||
| NM_000466.3:c.1284C>T MANE Select | NP_000457.1:p.Ala428= | |
| NM_001282677.2:c.1284C>T | NP_001269606.1:p.Ala428= | |
| NM_001282678.2:c.660C>T | NP_001269607.1:p.Ala220= |