Linked Data
ClinVar Variation Id:
1481609
ClinVar RCV Id:
RCV001988379
dbSNP Id:
rs1212331558
gnomAD v2:
1-43395646-T-C
gnomAD v4:
1-42929975-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929975T>C , CM000663.2:g.42929975T>C | GRCh38 |
| NC_000001.10:g.43395646T>C , CM000663.1:g.43395646T>C | GRCh37 |
| NC_000001.9:g.43168233T>C | NCBI36 |
| NG_008232.1:g.34202A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.577A>G MANE Select | ENSP00000416293.2:p.Ile193Val | |
| ENST00000674765.1:c.577A>G | ENSP00000501811.1:p.Ile193Val | |
| ENST00000675112.1:n.600A>G | ||
| ENST00000676254.1:n.1026A>G | ||
| ENST00000426263.7:c.577A>G | ENSP00000416293.2:p.Ile193Val | |
| ENST00000439722.2:c.456A>G | ENSP00000395521.2:n.456A>G | |
| ENST00000475162.3:c.415+651A>G | ||
| ENST00000630287.2:c.517-195A>G | ENSP00000486694.1:n.517-195A>G | |
| NM_006516.2:c.577A>G | NP_006507.2:p.Ile193Val | |
| NM_006516.3:c.577A>G | NP_006507.2:p.Ile193Val | |
| NM_006516.4:c.577A>G MANE Select | NP_006507.2:p.Ile193Val |