Linked Data
ClinVar Variation Id:
2796911
ClinVar RCV Id:
RCV003670903
dbSNP Id:
rs1955358439
gnomAD v4:
12-57766108-C-T
MyVariant Identifiers:
chr12:g.58159891C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766108C>T , CM000674.2:g.57766108C>T | GRCh38 |
| NC_000012.11:g.58159891C>T , CM000674.1:g.58159891C>T | GRCh37 |
| NC_000012.10:g.56446158C>T | NCBI36 |
| NG_007076.1:g.6086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.197G>A | ||
| ENST00000713544.1:c.285G>A | ENSP00000518840.1:p.Glu95= | |
| ENST00000713545.1:c.285G>A | ENSP00000518841.1:p.Glu95= | |
| ENST00000228606.9:c.285G>A MANE Select | ENSP00000228606.4:p.Glu95= | |
| ENST00000228606.8:c.285G>A | ENSP00000228606.4:p.Glu95= | |
| ENST00000546496.1:n.113G>A | ||
| ENST00000546609.1:c.197G>A | ||
| ENST00000547344.5:n.339G>A | ||
| ENST00000552186.1:n.404G>A | ||
| NM_000785.3:c.285G>A | NP_000776.1:p.Glu95= | |
| NM_000785.4:c.285G>A MANE Select | NP_000776.1:p.Glu95= |