ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99786008 (NFE)
Genomes Max Group AF
0.99283649 (NFE)
Exomes Max Group AF
0.99782897 (NFE)
MyVariant.info:
GRCh38
chr1:g.171208951C>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171208951C>T , CM000663.2:g.171208951C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209929.10:c.1414C>T MANE Select | ENSP00000209929.8:p.Gln472Ter | |
| ENST00000209929.9:c.1414C>T | ENSP00000209929.8:p.Gln472Ter | |
| ENST00000488431.1:n.406C>T | ||
| ENST00000529935.5:c.1199C>T | ENSP00000487002.1:n.1199C>T | |
| NM_001301347.1:c.754C>T | NP_001288276.1:p.Gln252Ter | |
| NM_001460.4:c.1414C>T | NP_001451.2:p.Gln472Ter | |
| XR_426768.2:n.1531C>T | ||
| XR_921761.1:n.1531C>T | ||
| XR_922278.1:n.507+38630G>A | ||
| NM_001365900.1:c.1219C>T | NP_001352829.1:p.Gln407Ter | |
| NR_158622.1:n.1434C>T | ||
| XR_001737072.2:n.1481C>T | ||
| XR_001738291.2:n.1306+38630G>A | ||
| XR_921761.3:n.1481C>T | ||
| XR_922278.3:n.1306+38630G>A | ||
| NM_001460.5:c.1414C>T MANE Select | NP_001451.2:p.Gln472Ter | |
| NR_160266.1:n.1342C>T | ||
| NM_001301347.2:c.754C>T | NP_001288276.1:p.Gln252Ter |