ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00071751 (NFE)
Genomes Max Group AF
0.00053368 (NFE)
Exomes Max Group AF
0.00072088 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16876942C>T , CM000672.2:g.16876942C>T | GRCh38 |
| NC_000010.10:g.16918941C>T , CM000672.1:g.16918941C>T | GRCh37 |
| NC_000010.9:g.16958947C>T | NCBI36 |
| NG_008967.1:g.257876G>A , LRG_540:g.257876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.9061G>A MANE Select | ENSP00000367064.4:p.Glu3021Lys | |
| ENST00000377833.8:c.9061G>A | ENSP00000367064.4:p.Glu3021Lys | |
| NM_001081.3:c.9061G>A , LRG_540t1:c.9061G>A | NP_001072.2:p.Glu3021Lys | |
| XM_011519709.1:c.5047G>A | XP_011518011.1:p.Glu1683Lys | |
| XM_011519710.1:c.5023G>A | XP_011518012.1:p.Glu1675Lys | |
| XM_011519711.1:c.4903G>A | XP_011518013.1:p.Glu1635Lys | |
| XM_011519709.2:c.5047G>A | XP_011518011.1:p.Glu1683Lys | |
| XM_011519710.2:c.5023G>A | XP_011518012.1:p.Glu1675Lys | |
| XM_011519711.3:c.4903G>A | XP_011518013.1:p.Glu1635Lys | |
| NM_001081.4:c.9061G>A MANE Select | NP_001072.2:p.Glu3021Lys |