gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45949482 (NFE)
Genomes Max Group AF
0.45949621 (NFE)
Exomes Max Group AF
0.45923918 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35004556C>T , CM000679.2:g.35004556C>T | GRCh38 |
| NC_000017.10:g.33331575C>T , CM000679.1:g.33331575C>T | GRCh37 |
| NC_000017.9:g.30355688C>T | NCBI36 |
| NG_029221.1:g.29059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378526.9:c.*50C>T MANE Select | ENSP00000367787.3:n.*50C>T | |
| ENST00000378526.8:c.*50C>T | ENSP00000367787.3:n.*50C>T | |
| ENST00000593099.5:n.4416C>T | ||
| NM_013975.3:c.*50C>T | NP_039269.2:n.*50C>T | |
| XM_005257970.2:c.*50C>T | XP_005258027.1:n.*50C>T | |
| XM_011524797.1:c.2823+1767C>T | XP_011523099.1:n.2823+1767C>T | |
| XM_011524798.1:c.2796+1767C>T | XP_011523100.1:n.2796+1767C>T | |
| XM_011524799.1:c.2796+1767C>T | XP_011523101.1:n.2796+1767C>T | |
| XM_011524800.1:c.2823+1767C>T | XP_011523102.1:n.2823+1767C>T | |
| XM_005257970.4:c.*50C>T | XP_005258027.1:n.*50C>T | |
| XM_017024624.1:c.*50C>T | XP_016880113.1:n.*50C>T | |
| NM_013975.4:c.*50C>T MANE Select | NP_039269.2:n.*50C>T |