gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85627936 (NFE)
Genomes Max Group AF
0.85627936 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.76357928G>A , CM000680.2:g.76357928G>A | GRCh38 |
| NC_000018.9:g.74069883G>A , CM000680.1:g.74069883G>A | GRCh37 |
| NC_000018.8:g.72198871G>A | NCBI36 |
| NG_032949.1:g.142263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443185.7:c.*4570C>T MANE Select | ENSP00000394757.2:n.*4570C>T | |
| NM_014643.3:c.*4570C>T | NP_055458.1:n.*4570C>T | |
| NM_014643.4:c.*4570C>T MANE Select | NP_055458.1:n.*4570C>T |