gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31621068 (EAS)
Genomes Max Group AF
0.31621068 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83076927C>T , CM000667.2:g.83076927C>T | GRCh38 |
| NC_000005.9:g.82372746C>T , CM000667.1:g.82372746C>T | GRCh37 |
| NC_000005.8:g.82408502C>T | NCBI36 |
| NG_047086.1:g.4519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502346.2:c.3+394G>A MANE Select | ENSP00000424707.1:n.3+394G>A | |
| ENST00000502346.1:c.3+394G>A | ENSP00000424707.1:n.3+394G>A | |
| ENST00000503892.1:n.146+791G>A | ||
| ENST00000504622.5:n.133+394G>A | ||
| ENST00000509770.1:n.104+394G>A | ||
| ENST00000511450.5:n.47+394G>A | ||
| NM_174909.4:c.3+394G>A | NP_777569.1:n.3+394G>A | |
| NM_174909.5:c.3+394G>A MANE Select | NP_777569.1:n.3+394G>A |