ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00155091 (AFR)
Genomes Max Group AF
0.00136686 (AFR)
Exomes Max Group AF
0.0015625 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301834A>C , CM000666.2:g.6301834A>C | GRCh38 |
| NC_000004.11:g.6303561A>C , CM000666.1:g.6303561A>C | GRCh37 |
| NC_000004.10:g.6354462A>C | NCBI36 |
| NG_011700.1:g.36985A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2075A>C | ENSP00000507852.1:p.Glu692Ala | |
| ENST00000683395.1:c.2016A>C | ||
| ENST00000684087.1:c.2039A>C | ENSP00000506978.1:p.Glu680Ala | |
| ENST00000506362.2:c.1790A>C | ENSP00000424103.2:p.Glu597Ala | |
| ENST00000673642.1:c.1698A>C | ENSP00000501242.1:n.1698A>C | |
| ENST00000673991.1:c.2075A>C | ENSP00000501033.1:p.Glu692Ala | |
| ENST00000226760.5:c.2039A>C MANE Select | ENSP00000226760.1:p.Glu680Ala | |
| ENST00000503569.5:c.2039A>C | ENSP00000423337.1:p.Glu680Ala | |
| ENST00000507765.1:n.2224A>C | ||
| NM_001145853.1:c.2039A>C | NP_001139325.1:p.Glu680Ala | |
| NM_006005.3:c.2039A>C MANE Select | NP_005996.2:p.Glu680Ala | |
| XM_017008586.1:c.2048A>C | XP_016864075.1:p.Glu683Ala |