gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41765869 (NFE)
Genomes Max Group AF
0.41765869 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83075876C>T , CM000667.2:g.83075876C>T | GRCh38 |
| NC_000005.9:g.82371695C>T , CM000667.1:g.82371695C>T | GRCh37 |
| NC_000005.8:g.82407451C>T | NCBI36 |
| NG_047086.1:g.3468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502346.2:c.3+1445G>A MANE Select | ENSP00000424707.1:n.3+1445G>A | |
| ENST00000502346.1:c.3+1445G>A | ENSP00000424707.1:n.3+1445G>A | |
| ENST00000503892.1:n.146+1842G>A | ||
| ENST00000504622.5:n.133+1445G>A | ||
| ENST00000509770.1:n.104+1445G>A | ||
| ENST00000511450.5:n.47+1445G>A | ||
| NM_174909.4:c.3+1445G>A | NP_777569.1:n.3+1445G>A | |
| NM_174909.5:c.3+1445G>A MANE Select | NP_777569.1:n.3+1445G>A |