gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93524312 (AFR)
Genomes Max Group AF
0.93524312 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68181905G>A , CM000664.2:g.68181905G>A | GRCh38 |
| NC_000002.11:g.68409037G>A , CM000664.1:g.68409037G>A | GRCh37 |
| NC_000002.10:g.68262541G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234310.8:c.466-895C>T MANE Select | ENSP00000234310.3:n.466-895C>T | |
| ENST00000234310.7:c.466-895C>T | ENSP00000234310.3:n.466-895C>T | |
| ENST00000406334.3:c.435+4563C>T | ENSP00000384974.3:n.435+4563C>T | |
| ENST00000409377.1:c.436-895C>T | ENSP00000387148.1:n.436-895C>T | |
| ENST00000409752.5:c.523-895C>T | ENSP00000387216.1:n.523-895C>T | |
| NM_000945.3:c.466-895C>T | NP_000936.1:n.466-895C>T | |
| NM_000945.4:c.466-895C>T MANE Select | NP_000936.1:n.466-895C>T |