gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76278402 (AFR)
Genomes Max Group AF
0.76278402 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147857715C>T , CM000669.2:g.147857715C>T | GRCh38 |
| NC_000007.13:g.147554807C>T , CM000669.1:g.147554807C>T | GRCh37 |
| NC_000007.12:g.147185740C>T | NCBI36 |
| NG_007092.2:g.1746355C>T | |
| NG_007092.3:g.1746715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2099-45850C>T MANE Select | ENSP00000354778.3:n.2099-45850C>T | |
| ENST00000636870.1:n.1961-45850C>T | ||
| ENST00000637825.1:n.1582-45850C>T | ||
| ENST00000361727.7:c.2099-45850C>T | ENSP00000354778.3:n.2099-45850C>T | |
| ENST00000455301.2:n.34-45850C>T | ||
| ENST00000627772.2:n.272-45850C>T | ||
| NM_014141.5:c.2099-45850C>T | NP_054860.1:n.2099-45850C>T | |
| XM_006715919.1:c.587-45850C>T | XP_006715982.1:n.587-45850C>T | |
| NM_014141.6:c.2099-45850C>T MANE Select | NP_054860.1:n.2099-45850C>T |