ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00270489 (SAS)
Genomes Max Group AF
0.00257593 (SAS)
Exomes Max Group AF
0.00264677 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879311G>A , CM000663.2:g.156879311G>A | GRCh38 |
| NC_000001.10:g.156849103G>A , CM000663.1:g.156849103G>A | GRCh37 |
| NC_000001.9:g.155115727G>A | NCBI36 |
| NG_007493.1:g.68562G>A , LRG_261:g.68562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1815G>A | ENSP00000502725.1:p.Lys605= | |
| ENST00000392302.7:c.1815G>A | ENSP00000376120.3:p.Lys605= | |
| ENST00000497019.7:c.*587G>A | ENSP00000436804.2:n.*587G>A | |
| ENST00000524377.7:c.1995G>A MANE Select | ENSP00000431418.1:p.Lys665= | |
| ENST00000674537.1:c.1815G>A | ENSP00000502725.1:p.Lys605= | |
| ENST00000358660.3:c.1986G>A | ENSP00000351486.3:p.Lys662= | |
| ENST00000368196.7:c.1977G>A | ENSP00000357179.3:p.Lys659= | |
| ENST00000392302.6:c.1887G>A | ENSP00000376120.2:p.Lys629= | |
| ENST00000497019.6:c.*587G>A | ENSP00000436804.1:n.*587G>A | |
| ENST00000524377.5:c.1995G>A | ENSP00000431418.1:p.Lys665= | |
| ENST00000530298.5:n.2448G>A | ||
| NM_001007792.1:c.1887G>A , LRG_261t1:c.1887G>A | NP_001007793.1:p.Lys629= | |
| NM_001012331.1:c.1977G>A , LRG_261t2:c.1977G>A | NP_001012331.1:p.Lys659= | |
| NM_002529.3:c.1995G>A , LRG_261t3:c.1995G>A | NP_002520.2:p.Lys665= | |
| NM_001012331.2:c.1977G>A | NP_001012331.1:p.Lys659= | |
| NM_002529.4:c.1995G>A MANE Select | NP_002520.2:p.Lys665= |