Linked Data
ClinVar Variation Id:
725255
ClinVar RCV Id:
RCV000899288
dbSNP Id:
rs151258734
ExAC:
12:52913610 G / A
gnomAD v2:
12-52913610-G-A
gnomAD v3:
12-52519826-G-A
gnomAD v4:
12-52519826-G-A
COSMIC:
COSM940763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519826G>A , CM000674.2:g.52519826G>A | GRCh38 |
| NC_000012.11:g.52913610G>A , CM000674.1:g.52913610G>A | GRCh37 |
| NC_000012.10:g.51199877G>A | NCBI36 |
| NG_008297.1:g.5634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.471C>T MANE Select | ENSP00000252242.4:p.Ile157= | |
| ENST00000252242.8:c.471C>T | ENSP00000252242.4:p.Ile157= | |
| ENST00000549420.1:c.141C>T | ENSP00000447209.1:p.Ile47= | |
| ENST00000551275.1:c.366C>T | ENSP00000448041.1:p.Ile122= | |
| ENST00000552629.5:n.569C>T | ||
| NM_000424.3:c.471C>T | NP_000415.2:p.Ile157= | |
| NM_000424.4:c.471C>T MANE Select | NP_000415.2:p.Ile157= |