gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20979367 (AFR)
Genomes Max Group AF
0.20979367 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94947445C>T , CM000672.2:g.94947445C>T | GRCh38 |
| NC_000010.10:g.96707202C>T , CM000672.1:g.96707202C>T | GRCh37 |
| NC_000010.9:g.96697192C>T | NCBI36 |
| NG_008385.1:g.13788C>T | |
| NG_008385.2:g.14288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.482-334C>T MANE Select | ENSP00000260682.6:n.482-334C>T | |
| ENST00000643112.1:c.482-334C>T | ENSP00000496202.1:n.482-334C>T | |
| ENST00000645207.1:n.635-334C>T | ||
| ENST00000260682.6:c.482-334C>T | ENSP00000260682.6:n.482-334C>T | |
| ENST00000473496.1:n.253-334C>T | ||
| NM_000771.3:c.482-334C>T | NP_000762.2:n.482-334C>T | |
| NM_000771.4:c.482-334C>T MANE Select | NP_000762.2:n.482-334C>T |