Linked Data
ClinVar Variation Id:
1592896
ClinVar RCV Id:
RCV002122357
dbSNP Id:
rs2136356498
MyVariant Identifiers:
chr12:g.12871196G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718262G>A , CM000674.2:g.12718262G>A | GRCh38 |
| NC_000012.11:g.12871196G>A , CM000674.1:g.12871196G>A | GRCh37 |
| NC_000012.10:g.12762463G>A | NCBI36 |
| NG_016341.1:g.5895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.423G>A | ENSP00000507272.1:p.Gln141= | |
| ENST00000682620.1:n.1631-563G>A | ||
| ENST00000684771.1:n.585-563G>A | ||
| ENST00000228872.9:c.423G>A MANE Select | ENSP00000228872.4:p.Gln141= | |
| ENST00000228872.8:c.423G>A | ENSP00000228872.4:p.Gln141= | |
| ENST00000396340.1:c.423G>A | ENSP00000379629.1:p.Gln141= | |
| ENST00000442489.1:c.193+209G>A | ENSP00000407597.1:n.193+209G>A | |
| ENST00000477087.1:n.155-563G>A | ||
| NM_004064.4:c.423G>A | NP_004055.1:p.Gln141= | |
| NM_004064.5:c.423G>A MANE Select | NP_004055.1:p.Gln141= |