Linked Data
dbSNP Id:
rs766452283
gnomAD v4:
12-57766051-C-G
MyVariant Identifiers:
chr12:g.58159834C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766051C>G , CM000674.2:g.57766051C>G | GRCh38 |
| NC_000012.11:g.58159834C>G , CM000674.1:g.58159834C>G | GRCh37 |
| NC_000012.10:g.56446101C>G | NCBI36 |
| NG_007076.1:g.6143G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.254G>C | ||
| ENST00000713544.1:c.342G>C | ENSP00000518840.1:p.Thr114= | |
| ENST00000713545.1:c.342G>C | ENSP00000518841.1:p.Thr114= | |
| ENST00000228606.9:c.342G>C MANE Select | ENSP00000228606.4:p.Thr114= | |
| ENST00000228606.8:c.342G>C | ENSP00000228606.4:p.Thr114= | |
| ENST00000546496.1:n.170G>C | ||
| ENST00000546609.1:c.254G>C | ||
| ENST00000547344.5:n.396G>C | ||
| ENST00000552186.1:n.461G>C | ||
| NM_000785.3:c.342G>C | NP_000776.1:p.Thr114= | |
| NM_000785.4:c.342G>C MANE Select | NP_000776.1:p.Thr114= |