gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35434527 (EAS)
Genomes Max Group AF
0.3603781 (EAS)
Exomes Max Group AF
0.35204409 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94417738G>T , CM000669.2:g.94417738G>T | GRCh38 |
| NC_000007.13:g.94047050G>T , CM000669.1:g.94047050G>T | GRCh37 |
| NC_000007.12:g.93884986G>T | NCBI36 |
| NG_007405.1:g.28178G>T , LRG_2:g.28178G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1878G>T MANE Select | ENSP00000297268.6:p.Val626= | |
| ENST00000297268.10:c.1878G>T | ENSP00000297268.6:p.Val626= | |
| ENST00000473573.5:n.215G>T | ||
| ENST00000497316.5:n.275G>T | ||
| ENST00000620463.1:c.1872G>T | ENSP00000477719.1:p.Val624= | |
| NM_000089.3:c.1878G>T , LRG_2t1:c.1878G>T | NP_000080.2:p.Val626= | |
| NM_000089.4:c.1878G>T MANE Select | NP_000080.2:p.Val626= |