gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01619812 (NFE)
Genomes Max Group AF
0.01619812 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169513837G>A , CM000663.2:g.169513837G>A | GRCh38 |
| NC_000001.10:g.169483075G>A , CM000663.1:g.169483075G>A | GRCh37 |
| NC_000001.9:g.167749699G>A | NCBI36 |
| NG_011806.1:g.77695C>T , LRG_553:g.77695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.*476C>T MANE Select | ENSP00000356771.3:n.*476C>T | |
| NM_000130.4:c.*476C>T , LRG_553t1:c.*476C>T | NP_000121.2:n.*476C>T | |
| XM_017000660.2:c.*476C>T | XP_016856149.1:n.*476C>T | |
| NM_000130.5:c.*476C>T MANE Select | NP_000121.2:n.*476C>T |