gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002394 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000237 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102238827C>T , CM000670.2:g.102238827C>T | GRCh38 |
| NC_000008.10:g.103251055C>T , CM000670.1:g.103251055C>T | GRCh37 |
| NC_000008.9:g.103320231C>T | NCBI36 |
| NG_016617.1:g.5292G>A , LRG_788:g.5292G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.48G>A MANE Select | ENSP00000251810.3:p.Glu16= | |
| ENST00000251810.7:c.48G>A | ENSP00000251810.3:p.Glu16= | |
| ENST00000395912.6:c.48G>A | ENSP00000379248.2:p.Glu16= | |
| ENST00000519317.5:c.48G>A | ENSP00000430641.1:p.Glu16= | |
| ENST00000519962.5:c.48G>A | ENSP00000429140.1:p.Glu16= | |
| ENST00000522394.1:c.48G>A | ENSP00000429578.1:p.Glu16= | |
| ENST00000523957.1:c.48G>A | ENSP00000427830.1:p.Glu16= | |
| NM_001172477.1:c.-5G>A , LRG_788t1:c.-5G>A | NP_001165948.1:n.-5G>A | |
| NM_001172478.1:c.48G>A | NP_001165949.1:p.Glu16= | |
| NM_015713.4:c.48G>A , LRG_788t2:c.48G>A | NP_056528.2:p.Glu16= | |
| NM_001172478.2:c.48G>A | NP_001165949.1:p.Glu16= | |
| NM_015713.5:c.48G>A MANE Select | NP_056528.2:p.Glu16= |