Linked Data
MyVariant Identifiers:
chr12:g.58158966G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765183G>C , CM000674.2:g.57765183G>C | GRCh38 |
| NC_000012.11:g.58158966G>C , CM000674.1:g.58158966G>C | GRCh37 |
| NC_000012.10:g.56445233G>C | NCBI36 |
| NG_007076.1:g.7011C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.530C>G | ||
| ENST00000713544.1:c.699C>G | ENSP00000518840.1:p.Arg233= | |
| ENST00000713545.1:c.676C>G | ENSP00000518841.1:p.Leu226Val | |
| ENST00000228606.9:c.618C>G MANE Select | ENSP00000228606.4:p.Arg206= | |
| ENST00000228606.8:c.618C>G | ENSP00000228606.4:p.Arg206= | |
| ENST00000546567.5:c.-88C>G | ENSP00000449472.1:n.-88C>G | |
| ENST00000546609.1:c.530C>G | ||
| ENST00000547344.5:n.757C>G | ||
| ENST00000547451.1:n.418C>G | ||
| NM_000785.3:c.618C>G | NP_000776.1:p.Arg206= | |
| NM_000785.4:c.618C>G MANE Select | NP_000776.1:p.Arg206= |