gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2578455 (EAS)
Genomes Max Group AF
0.2688763 (EAS)
Exomes Max Group AF
0.25447056 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77112438C>T , CM000673.2:g.77112438C>T | GRCh38 |
| NC_000011.9:g.76823484C>T , CM000673.1:g.76823484C>T | GRCh37 |
| NC_000011.8:g.76501132C>T | NCBI36 |
| NG_033002.1:g.50493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531028.2:c.298-151C>T | ENSP00000467244.2:n.298-151C>T | |
| ENST00000648180.1:c.298-151C>T MANE Select | ENSP00000498132.1:n.298-151C>T | |
| ENST00000278559.7:c.298-151C>T | ENSP00000278559.3:n.298-151C>T | |
| ENST00000456580.6:c.418-151C>T | ENSP00000409996.2:n.418-151C>T | |
| ENST00000529629.5:c.298-151C>T | ENSP00000432332.1:n.298-151C>T | |
| ENST00000531028.1:c.150-11292C>T | ENSP00000467244.1:n.150-11292C>T | |
| ENST00000533889.1:n.220-151C>T | ||
| ENST00000615896.1:c.298-151C>T | ENSP00000483282.1:n.298-151C>T | |
| NM_004055.4:c.298-151C>T | NP_004046.2:n.298-151C>T | |
| XM_011545225.1:c.418-151C>T | XP_011543527.1:n.418-151C>T | |
| XM_017018223.2:c.298-151C>T | XP_016873712.2:n.298-151C>T | |
| NM_004055.5:c.298-151C>T MANE Select | NP_004046.2:n.298-151C>T |