gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008838 (EAS)
Exomes Max Group AF
0.00008201 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169515612C>T , CM000663.2:g.169515612C>T | GRCh38 |
| NC_000001.10:g.169484850C>T , CM000663.1:g.169484850C>T | GRCh37 |
| NC_000001.9:g.167751474C>T | NCBI36 |
| NG_011806.1:g.75920G>A , LRG_553:g.75920G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.6360G>A MANE Select | ENSP00000356771.3:p.Lys2120= | |
| ENST00000367796.3:c.6375G>A | ENSP00000356770.3:p.Lys2125= | |
| ENST00000367797.7:c.6360G>A | ENSP00000356771.3:p.Lys2120= | |
| ENST00000495481.1:n.134G>A | ||
| NM_000130.4:c.6360G>A , LRG_553t1:c.6360G>A | NP_000121.2:p.Lys2120= | |
| XM_017000660.2:c.5949G>A | XP_016856149.1:p.Lys1983= | |
| NM_000130.5:c.6360G>A MANE Select | NP_000121.2:p.Lys2120= |