Linked Data
ClinVar Variation Id:
2896849
ClinVar RCV Id:
RCV003733150
dbSNP Id:
rs565490799
ExAC:
12:58159960 G / A
gnomAD v2:
12-58159960-G-A
gnomAD v3:
12-57766177-G-A
gnomAD v4:
12-57766177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766177G>A , CM000674.2:g.57766177G>A | GRCh38 |
| NC_000012.11:g.58159960G>A , CM000674.1:g.58159960G>A | GRCh37 |
| NC_000012.10:g.56446227G>A | NCBI36 |
| NG_007076.1:g.6017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.128C>T | ||
| ENST00000713544.1:c.216C>T | ENSP00000518840.1:p.Phe72= | |
| ENST00000713545.1:c.216C>T | ENSP00000518841.1:p.Phe72= | |
| ENST00000228606.9:c.216C>T MANE Select | ENSP00000228606.4:p.Phe72= | |
| ENST00000228606.8:c.216C>T | ENSP00000228606.4:p.Phe72= | |
| ENST00000546496.1:n.44C>T | ||
| ENST00000546609.1:c.128C>T | ||
| ENST00000547344.5:n.270C>T | ||
| ENST00000552186.1:n.335C>T | ||
| NM_000785.3:c.216C>T | NP_000776.1:p.Phe72= | |
| NM_000785.4:c.216C>T MANE Select | NP_000776.1:p.Phe72= |