gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69327494 (EAS)
Genomes Max Group AF
0.69327494 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23199668C>T , CM000670.2:g.23199668C>T | GRCh38 |
| NC_000008.10:g.23057181C>T , CM000670.1:g.23057181C>T | GRCh37 |
| NC_000008.9:g.23113126C>T | NCBI36 |
| NG_032107.1:g.30500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.831+218G>A MANE Select | ENSP00000221132.3:n.831+218G>A | |
| ENST00000221132.7:c.831+218G>A | ENSP00000221132.3:n.831+218G>A | |
| ENST00000613472.1:c.357+218G>A | ENSP00000480778.1:n.357+218G>A | |
| NM_003844.3:c.831+218G>A | NP_003835.3:n.831+218G>A | |
| NM_003844.4:c.831+218G>A MANE Select | NP_003835.3:n.831+218G>A |