gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02233002 (AFR)
Genomes Max Group AF
0.02233002 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169512825A>G , CM000663.2:g.169512825A>G | GRCh38 |
| NC_000001.10:g.169482063A>G , CM000663.1:g.169482063A>G | GRCh37 |
| NC_000001.9:g.167748687A>G | NCBI36 |
| NG_011806.1:g.78707T>C , LRG_553:g.78707T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.*1488T>C MANE Select | ENSP00000356771.3:n.*1488T>C | |
| NM_000130.4:c.*1488T>C , LRG_553t1:c.*1488T>C | NP_000121.2:n.*1488T>C | |
| XM_017000660.2:c.*1488T>C | XP_016856149.1:n.*1488T>C | |
| NM_000130.5:c.*1488T>C MANE Select | NP_000121.2:n.*1488T>C |