ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033144 (AMR)
Genomes Max Group AF
0.00065697 (AMR)
Exomes Max Group AF
0.00015445 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16937722T>C , CM000672.2:g.16937722T>C | GRCh38 |
| NC_000010.10:g.16979721T>C , CM000672.1:g.16979721T>C | GRCh37 |
| NC_000010.9:g.17019727T>C | NCBI36 |
| NG_008967.1:g.197096A>G , LRG_540:g.197096A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.5796A>G MANE Select | ENSP00000367064.4:p.Glu1932= | |
| ENST00000377833.8:c.5796A>G | ENSP00000367064.4:p.Glu1932= | |
| NM_001081.3:c.5796A>G , LRG_540t1:c.5796A>G | NP_001072.2:p.Glu1932= | |
| XM_011519708.1:c.5796A>G | XP_011518010.1:p.Glu1932= | |
| XM_011519709.1:c.1782A>G | XP_011518011.1:p.Glu594= | |
| XM_011519710.1:c.1758A>G | XP_011518012.1:p.Glu586= | |
| XM_011519711.1:c.1638A>G | XP_011518013.1:p.Glu546= | |
| XM_011519708.2:c.5796A>G | XP_011518010.1:p.Glu1932= | |
| XM_011519709.2:c.1782A>G | XP_011518011.1:p.Glu594= | |
| XM_011519710.2:c.1758A>G | XP_011518012.1:p.Glu586= | |
| XM_011519711.3:c.1638A>G | XP_011518013.1:p.Glu546= | |
| NM_001081.4:c.5796A>G MANE Select | NP_001072.2:p.Glu1932= |