gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002257 (AMR)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002988 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49505928G>A , CM000672.2:g.49505928G>A | GRCh38 |
| NC_000010.10:g.50713974G>A , CM000672.1:g.50713974G>A | GRCh37 |
| NC_000010.9:g.50383980G>A | NCBI36 |
| NG_009442.1:g.38174C>T , LRG_465:g.38174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1482C>T MANE Select | ENSP00000348089.5:p.Asp494= | |
| ENST00000679811.1:n.1565C>T | ||
| ENST00000681632.1:n.1560C>T | ||
| ENST00000681659.1:c.1482C>T | ENSP00000505631.1:p.Asp494= | |
| ENST00000355832.9:c.1482C>T | ENSP00000348089.5:p.Asp494= | |
| ENST00000475116.1:n.72C>T | ||
| ENST00000623073.3:c.-5305C>T | ENSP00000485650.1:n.-5305C>T | |
| ENST00000623788.1:n.481C>T | ||
| NM_000124.3:c.1482C>T | NP_000115.1:p.Asp494= | |
| NM_001346440.1:c.1482C>T | NP_001333369.1:p.Asp494= | |
| NM_000124.4:c.1482C>T MANE Select | NP_000115.1:p.Asp494= | |
| NM_001346440.2:c.1482C>T | NP_001333369.1:p.Asp494= |