ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00261709 (NFE)
Genomes Max Group AF
0.00210994 (NFE)
Exomes Max Group AF
0.00263154 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879224G>A , CM000663.2:g.156879224G>A | GRCh38 |
| NC_000001.10:g.156849016G>A , CM000663.1:g.156849016G>A | GRCh37 |
| NC_000001.9:g.155115640G>A | NCBI36 |
| NG_007493.1:g.68475G>A , LRG_261:g.68475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1728G>A | ENSP00000502725.1:p.Ala576= | |
| ENST00000392302.7:c.1728G>A | ENSP00000376120.3:p.Ala576= | |
| ENST00000497019.7:c.*500G>A | ENSP00000436804.2:n.*500G>A | |
| ENST00000524377.7:c.1908G>A MANE Select | ENSP00000431418.1:p.Ala636= | |
| ENST00000674537.1:c.1728G>A | ENSP00000502725.1:p.Ala576= | |
| ENST00000358660.3:c.1899G>A | ENSP00000351486.3:p.Ala633= | |
| ENST00000368196.7:c.1890G>A | ENSP00000357179.3:p.Ala630= | |
| ENST00000392302.6:c.1800G>A | ENSP00000376120.2:p.Ala600= | |
| ENST00000497019.6:c.*500G>A | ENSP00000436804.1:n.*500G>A | |
| ENST00000524377.5:c.1908G>A | ENSP00000431418.1:p.Ala636= | |
| ENST00000530298.5:n.2361G>A | ||
| NM_001007792.1:c.1800G>A , LRG_261t1:c.1800G>A | NP_001007793.1:p.Ala600= | |
| NM_001012331.1:c.1890G>A , LRG_261t2:c.1890G>A | NP_001012331.1:p.Ala630= | |
| NM_002529.3:c.1908G>A , LRG_261t3:c.1908G>A | NP_002520.2:p.Ala636= | |
| NM_001012331.2:c.1890G>A | NP_001012331.1:p.Ala630= | |
| NM_002529.4:c.1908G>A MANE Select | NP_002520.2:p.Ala636= |