gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66233031C>T , CM000673.2:g.66233031C>T | GRCh38 |
| NC_000011.9:g.66000502C>T , CM000673.1:g.66000502C>T | GRCh37 |
| NC_000011.8:g.65757078C>T | NCBI36 |
| NG_033900.1:g.167679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.1803C>T MANE Select | ENSP00000316454.4:p.Ala601= | |
| ENST00000320580.8:c.1803C>T | ENSP00000316454.4:p.Ala601= | |
| ENST00000528935.1:c.-55C>T | ENSP00000437052.1:n.-55C>T | |
| ENST00000529757.5:c.411C>T | ENSP00000432858.1:p.Ala137= | |
| NM_018026.3:c.1803C>T | NP_060496.2:p.Ala601= | |
| XM_011545162.1:c.1482C>T | XP_011543464.1:p.Ala494= | |
| XM_011545163.1:c.1473C>T | XP_011543465.1:p.Ala491= | |
| XM_011545164.1:c.1464C>T | XP_011543466.1:p.Ala488= | |
| XM_011545164.2:c.1464C>T | XP_011543466.1:p.Ala488= | |
| NM_018026.4:c.1803C>T MANE Select | NP_060496.2:p.Ala601= |