dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82635234 (AFR)
Genomes Max Group AF
0.82635234 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85587861C>T , CM000664.2:g.85587861C>T | GRCh38 |
| NC_000002.11:g.85814984C>T , CM000664.1:g.85814984C>T | GRCh37 |
| NC_000002.10:g.85668495C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306384.5:c.3+3368C>T MANE Select | ENSP00000305647.4:n.3+3368C>T | |
| ENST00000306384.4:c.3+3368C>T | ENSP00000305647.4:n.3+3368C>T | |
| NM_006634.2:c.3+3368C>T | NP_006625.1:n.3+3368C>T | |
| NM_006634.3:c.3+3368C>T MANE Select | NP_006625.1:n.3+3368C>T |