Linked Data
ClinVar Variation Id:
411849
ClinVar RCV Id:
RCV000470888
dbSNP Id:
rs762764855
ExAC:
20:61982270 C / T
gnomAD v2:
20-61982270-C-T
gnomAD v4:
20-63350918-C-T
COSMIC:
COSM1413086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350918C>T , CM000682.2:g.63350918C>T | GRCh38 |
| NC_000020.10:g.61982270C>T , CM000682.1:g.61982270C>T | GRCh37 |
| NC_000020.9:g.61452714C>T | NCBI36 |
| NG_011931.1:g.15426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.493G>A MANE Select | ENSP00000359285.4:p.Val165Ile | |
| ENST00000370263.8:c.493G>A | ENSP00000359285.4:p.Val165Ile | |
| ENST00000463705.5:n.1141G>A | ||
| ENST00000467563.3:n.563G>A | ||
| ENST00000498043.6:c.517G>A | ||
| ENST00000615287.4:c.280G>A | ENSP00000483388.1:p.Val94Ile | |
| ENST00000627000.1:c.*182G>A | ENSP00000486914.1:n.*182G>A | |
| ENST00000628665.1:n.536G>A | ||
| ENST00000630240.1:n.214G>A | ||
| NM_000744.6:c.493G>A | NP_000735.1:p.Val165Ile | |
| NM_001256573.1:c.-36G>A | NP_001243502.1:n.-36G>A | |
| NR_046317.1:n.749G>A | ||
| XM_011528524.1:c.280G>A | XP_011526826.1:p.Val94Ile | |
| XM_017027625.2:c.-36G>A | XP_016883114.1:n.-36G>A | |
| XM_024451822.1:c.-36G>A | XP_024307590.1:n.-36G>A | |
| NM_001256573.2:c.-36G>A | NP_001243502.1:n.-36G>A | |
| NR_046317.2:n.702G>A | ||
| NM_000744.7:c.493G>A MANE Select | NP_000735.1:p.Val165Ile |