Linked Data
ClinVar Variation Id:
1009926
ClinVar RCV Id:
RCV001307487
dbSNP Id:
rs1946499193
gnomAD v4:
12-12718269-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718269T>A , CM000674.2:g.12718269T>A | GRCh38 |
| NC_000012.11:g.12871203T>A , CM000674.1:g.12871203T>A | GRCh37 |
| NC_000012.10:g.12762470T>A | NCBI36 |
| NG_016341.1:g.5902T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.430T>A | ENSP00000507272.1:p.Leu144Ile | |
| ENST00000682620.1:n.1631-556T>A | ||
| ENST00000684771.1:n.585-556T>A | ||
| ENST00000228872.9:c.430T>A MANE Select | ENSP00000228872.4:p.Leu144Ile | |
| ENST00000228872.8:c.430T>A | ENSP00000228872.4:p.Leu144Ile | |
| ENST00000396340.1:c.430T>A | ENSP00000379629.1:p.Leu144Ile | |
| ENST00000442489.1:c.193+216T>A | ENSP00000407597.1:n.193+216T>A | |
| ENST00000477087.1:n.155-556T>A | ||
| NM_004064.4:c.430T>A | NP_004055.1:p.Leu144Ile | |
| NM_004064.5:c.430T>A MANE Select | NP_004055.1:p.Leu144Ile |