gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000444 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35176829C>T , CM000682.2:g.35176829C>T | GRCh38 |
| NC_000020.10:g.33764632C>T , CM000682.1:g.33764632C>T | GRCh37 |
| NC_000020.9:g.33228293C>T | NCBI36 |
| NG_032899.1:g.9859C>T | |
| NG_032899.2:g.9859C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216968.5:c.*16C>T MANE Select | ENSP00000216968.3:n.*16C>T | |
| ENST00000216968.4:c.*16C>T | ENSP00000216968.3:n.*16C>T | |
| ENST00000634509.1:c.94+383C>T | ENSP00000489456.1:n.94+383C>T | |
| ENST00000635377.1:c.502-258C>T | ||
| NM_006404.4:c.*16C>T | NP_006395.2:n.*16C>T | |
| XM_011528496.1:c.601+383C>T | XP_011526798.1:n.601+383C>T | |
| NM_001355008.1:c.-101-10958G>A | NP_001341937.1:n.-101-10958G>A | |
| NM_006404.5:c.*16C>T MANE Select | NP_006395.2:n.*16C>T | |
| NM_001355008.2:c.-101-10958G>A | NP_001341937.1:n.-101-10958G>A |