Linked Data
ClinVar Variation Id:
11587
dbSNP Id:
rs121912288
gnomAD v2:
X-154001427-C-T
gnomAD v4:
X-154773152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773152C>T , CM000685.2:g.154773152C>T | GRCh38 |
| NC_000023.10:g.154001427C>T , CM000685.1:g.154001427C>T | GRCh37 |
| NC_000023.9:g.153654621C>T | NCBI36 |
| NG_009780.1:g.15397C>T , LRG_55:g.15397C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.938C>T | ENSP00000400542.2:p.Ala313Val | |
| ENST00000426673.6:c.*441C>T | ENSP00000407253.3:n.*441C>T | |
| ENST00000484317.6:n.843C>T | ||
| ENST00000696575.1:c.1058C>T | ENSP00000512730.1:p.Ala353Val | |
| ENST00000696577.1:c.1058C>T | ENSP00000512731.1:p.Ala353Val | |
| ENST00000696578.1:c.*10C>T | ENSP00000512732.1:n.*10C>T | |
| ENST00000696579.1:n.1160C>T | ||
| ENST00000696580.1:c.971C>T | ENSP00000512733.1:p.Ala324Val | |
| ENST00000696581.1:c.*1032C>T | ENSP00000512734.1:n.*1032C>T | |
| ENST00000696582.1:c.*264C>T | ENSP00000512735.1:n.*264C>T | |
| ENST00000696583.1:c.1019C>T | ENSP00000512736.1:p.Ala340Val | |
| ENST00000696584.1:n.1582C>T | ||
| ENST00000696585.1:n.1701C>T | ||
| ENST00000696586.1:n.1475C>T | ||
| ENST00000696587.1:c.938C>T | ENSP00000512737.1:p.Ala313Val | |
| ENST00000696588.1:c.449C>T | ENSP00000513251.1:p.Ala150Val | |
| ENST00000696589.1:n.833C>T | ||
| ENST00000696590.1:n.682C>T | ||
| ENST00000696591.1:n.407C>T | ||
| ENST00000696592.1:n.1937C>T | ||
| ENST00000696627.1:c.1058C>T | ENSP00000512764.1:p.Ala353Val | |
| ENST00000696628.1:c.1058C>T | ENSP00000512765.1:p.Ala353Val | |
| ENST00000369550.10:c.1058C>T MANE Select | ENSP00000358563.5:p.Ala353Val | |
| ENST00000369550.9:c.1058C>T | ENSP00000358563.5:p.Ala353Val | |
| ENST00000412124.5:c.316C>T | ||
| ENST00000426673.5:c.418C>T | ||
| ENST00000475966.1:n.547C>T | ||
| ENST00000481062.1:n.9C>T | ||
| ENST00000620277.4:c.1058C>T | ENSP00000478387.1:p.Ala353Val | |
| NM_001142463.2:c.1058C>T | NP_001135935.1:p.Ala353Val | |
| NM_001288747.1:c.1058C>T | NP_001275676.1:p.Ala353Val | |
| NM_001363.4:c.1058C>T | NP_001354.1:p.Ala353Val | |
| NR_110021.1:n.1759C>T | ||
| NR_110022.1:n.1878C>T | ||
| NR_110023.1:n.1652C>T | ||
| NM_001363.5:c.1058C>T MANE Select | NP_001354.1:p.Ala353Val | |
| NM_001142463.3:c.1058C>T | NP_001135935.1:p.Ala353Val | |
| NR_110021.2:n.1637C>T | ||
| NR_110022.2:n.1756C>T | ||
| NR_110023.2:n.1530C>T | ||
| NM_001288747.2:c.1058C>T | NP_001275676.1:p.Ala353Val |