gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3029903 (NFE)
Genomes Max Group AF
0.30352715 (NFE)
Exomes Max Group AF
0.25270854 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69171718C>T , CM000672.2:g.69171718C>T | GRCh38 |
| NC_000010.10:g.70931474C>T , CM000672.1:g.70931474C>T | GRCh37 |
| NC_000010.9:g.70601480C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263559.11:c.*449C>T MANE Select | ENSP00000263559.6:n.*449C>T | |
| ENST00000263559.10:c.*449C>T | ENSP00000263559.6:n.*449C>T | |
| ENST00000373382.5:c.*449C>T | ENSP00000362480.1:n.*449C>T | |
| ENST00000395098.5:c.*534C>T | ENSP00000378532.1:n.*534C>T | |
| NM_001035260.1:c.*534C>T | NP_001030337.1:n.*534C>T | |
| NM_004896.3:c.*449C>T | NP_004887.2:n.*449C>T | |
| XM_011540378.1:c.*449C>T | XP_011538680.1:n.*449C>T | |
| NM_001035260.2:c.*534C>T | NP_001030337.1:n.*534C>T | |
| NM_001318944.1:c.*449C>T | NP_001305873.1:n.*449C>T | |
| NM_001318945.1:c.*449C>T | NP_001305874.1:n.*449C>T | |
| NM_001318946.1:c.*449C>T | NP_001305875.1:n.*449C>T | |
| NM_004896.4:c.*449C>T | NP_004887.2:n.*449C>T | |
| NM_004896.5:c.*449C>T MANE Select | NP_004887.2:n.*449C>T | |
| NM_001318944.2:c.*449C>T | NP_001305873.1:n.*449C>T | |
| NM_001318945.2:c.*449C>T | NP_001305874.1:n.*449C>T | |
| NM_001318946.2:c.*449C>T | NP_001305875.1:n.*449C>T | |
| NM_001035260.3:c.*534C>T | NP_001030337.1:n.*534C>T |