ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00079315 (AFR)
Genomes Max Group AF
0.00085254 (AFR)
Exomes Max Group AF
0.00056916 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76083466C>T , CM000676.2:g.76083466C>T | GRCh38 |
| NC_000014.8:g.76549809C>T , CM000676.1:g.76549809C>T | GRCh37 |
| NC_000014.7:g.75619562C>T | NCBI36 |
| NG_031957.1:g.102714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.516C>T MANE Select | ENSP00000324177.6:p.Val172= | |
| ENST00000679083.1:c.453C>T | ENSP00000504736.1:p.Val151= | |
| ENST00000238628.10:c.531C>T | ENSP00000238628.6:p.Val177= | |
| ENST00000314067.10:c.516C>T | ENSP00000324177.6:p.Val172= | |
| ENST00000542766.5:c.516C>T | ENSP00000440064.1:p.Val172= | |
| ENST00000554026.5:n.867C>T | ||
| ENST00000555305.5:n.772C>T | ||
| NM_001102564.1:c.516C>T | NP_001096034.1:p.Val172= | |
| NM_052873.2:c.531C>T | NP_443105.2:p.Val177= | |
| NR_045664.1:n.470C>T | ||
| NR_045665.1:n.550C>T | ||
| NM_001102564.2:c.516C>T | NP_001096034.1:p.Val172= | |
| NM_052873.3:c.531C>T | NP_443105.2:p.Val177= | |
| NM_001102564.3:c.516C>T MANE Select | NP_001096034.1:p.Val172= | |
| NR_045664.2:n.460C>T | ||
| NR_045665.2:n.540C>T |