gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02901656 (AFR)
Genomes Max Group AF
0.0291172 (AFR)
Exomes Max Group AF
0.02428016 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30692953C>T , CM000665.2:g.30692953C>T | GRCh38 |
| NC_000003.11:g.30734445C>T , CM000665.1:g.30734445C>T | GRCh37 |
| NC_000003.10:g.30709449C>T | NCBI36 |
| NG_007490.1:g.91452C>T , LRG_779:g.91452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.*1354C>T MANE Select | ENSP00000295754.5:n.*1354C>T | |
| ENST00000672866.1:n.4654C>T | ||
| ENST00000673203.1:n.1936C>T | ||
| ENST00000295754.9:c.*1354C>T | ENSP00000295754.5:n.*1354C>T | |
| ENST00000359013.4:c.*1354C>T | ENSP00000351905.4:n.*1354C>T | |
| NM_001024847.2:c.*1354C>T , LRG_779t1:c.*1354C>T | NP_001020018.1:n.*1354C>T | |
| NM_003242.5:c.*1354C>T | NP_003233.4:n.*1354C>T | |
| XM_011534043.1:c.*1354C>T | XP_011532345.1:n.*1354C>T | |
| XM_011534044.1:c.*1354C>T | XP_011532346.1:n.*1354C>T | |
| XM_011534045.1:c.*1354C>T | XP_011532347.1:n.*1354C>T | |
| XM_011534043.2:c.*1354C>T | XP_011532345.1:n.*1354C>T | |
| XM_011534045.3:c.*1354C>T | XP_011532347.1:n.*1354C>T | |
| XM_017007106.1:c.*1354C>T | XP_016862595.1:n.*1354C>T | |
| NM_003242.6:c.*1354C>T MANE Select | NP_003233.4:n.*1354C>T |