Linked Data
ClinVar Variation Id:
1512362
ClinVar RCV Id:
RCV002045638
dbSNP Id:
rs770867924
ExAC:
1:43396317 C / T
gnomAD v2:
1-43396317-C-T
gnomAD v3:
1-42930646-C-T
gnomAD v4:
1-42930646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930646C>T , CM000663.2:g.42930646C>T | GRCh38 |
| NC_000001.10:g.43396317C>T , CM000663.1:g.43396317C>T | GRCh37 |
| NC_000001.9:g.43168904C>T | NCBI36 |
| NG_008232.1:g.33531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.496G>A MANE Select | ENSP00000416293.2:p.Val166Ile | |
| ENST00000674765.1:c.496G>A | ENSP00000501811.1:p.Val166Ile | |
| ENST00000675112.1:n.519G>A | ||
| ENST00000676254.1:n.945G>A | ||
| ENST00000426263.7:c.496G>A | ENSP00000416293.2:p.Val166Ile | |
| ENST00000439722.2:c.375G>A | ENSP00000395521.2:n.375G>A | |
| ENST00000475162.3:c.395G>A | ||
| ENST00000625233.2:n.704G>A | ||
| ENST00000630287.2:c.496G>A | ENSP00000486694.1:p.Val166Ile | |
| NM_006516.2:c.496G>A | NP_006507.2:p.Val166Ile | |
| NM_006516.3:c.496G>A | NP_006507.2:p.Val166Ile | |
| NM_006516.4:c.496G>A MANE Select | NP_006507.2:p.Val166Ile |