Linked Data
MyVariant Identifiers:
chr12:g.58158897A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765114A>G , CM000674.2:g.57765114A>G | GRCh38 |
| NC_000012.11:g.58158897A>G , CM000674.1:g.58158897A>G | GRCh37 |
| NC_000012.10:g.56445164A>G | NCBI36 |
| NG_007076.1:g.7080T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.599T>C | ||
| ENST00000713544.1:c.768T>C | ENSP00000518840.1:p.Phe256= | |
| ENST00000713545.1:c.745T>C | ENSP00000518841.1:p.Cys249Arg | |
| ENST00000228606.9:c.687T>C MANE Select | ENSP00000228606.4:p.Phe229= | |
| ENST00000228606.8:c.687T>C | ENSP00000228606.4:p.Phe229= | |
| ENST00000546567.5:c.-19T>C | ENSP00000449472.1:n.-19T>C | |
| ENST00000546609.1:c.599T>C | ||
| ENST00000547344.5:n.826T>C | ||
| ENST00000547451.1:n.487T>C | ||
| NM_000785.3:c.687T>C | NP_000776.1:p.Phe229= | |
| NM_000785.4:c.687T>C MANE Select | NP_000776.1:p.Phe229= |