ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027733 (AFR)
Genomes Max Group AF
0.00027966 (AFR)
Exomes Max Group AF
0.00018474 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506333T>C , CM000669.2:g.92506333T>C | GRCh38 |
| NC_000007.13:g.92135647T>C , CM000669.1:g.92135647T>C | GRCh37 |
| NC_000007.12:g.91973583T>C | NCBI36 |
| NG_008341.1:g.27199A>G | |
| NG_008341.2:g.27199A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1815A>G MANE Select | ENSP00000248633.4:p.Lys605= | |
| ENST00000248633.8:c.1815A>G | ENSP00000248633.4:p.Lys605= | |
| ENST00000422866.1:c.633A>G | ||
| ENST00000428214.5:c.1815A>G | ENSP00000394413.1:p.Lys605= | |
| ENST00000438045.5:c.849A>G | ENSP00000410438.1:p.Lys283= | |
| ENST00000484913.5:n.1854A>G | ||
| ENST00000496420.5:n.1491A>G | ||
| NM_000466.2:c.1815A>G | NP_000457.1:p.Lys605= | |
| NM_001282677.1:c.1815A>G | NP_001269606.1:p.Lys605= | |
| NM_001282678.1:c.1191A>G | NP_001269607.1:p.Lys397= | |
| XM_005250433.3:c.66A>G | XP_005250490.1:p.Lys22= | |
| XR_242246.3:n.1911A>G | ||
| XM_017012319.2:c.66A>G | XP_016867808.1:p.Lys22= | |
| XR_001744808.2:n.842A>G | ||
| XR_242246.5:n.1862A>G | ||
| NM_000466.3:c.1815A>G MANE Select | NP_000457.1:p.Lys605= | |
| NM_001282677.2:c.1815A>G | NP_001269606.1:p.Lys605= | |
| NM_001282678.2:c.1191A>G | NP_001269607.1:p.Lys397= |