Linked Data
MyVariant Identifiers:
chr12:g.58158894C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765111C>G , CM000674.2:g.57765111C>G | GRCh38 |
| NC_000012.11:g.58158894C>G , CM000674.1:g.58158894C>G | GRCh37 |
| NC_000012.10:g.56445161C>G | NCBI36 |
| NG_007076.1:g.7083G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.602G>C | ||
| ENST00000713544.1:c.771G>C | ENSP00000518840.1:p.Val257= | |
| ENST00000713545.1:c.748G>C | ENSP00000518841.1:p.Val250Leu | |
| ENST00000228606.9:c.690G>C MANE Select | ENSP00000228606.4:p.Val230= | |
| ENST00000228606.8:c.690G>C | ENSP00000228606.4:p.Val230= | |
| ENST00000546567.5:c.-16G>C | ENSP00000449472.1:n.-16G>C | |
| ENST00000546609.1:c.602G>C | ||
| ENST00000547344.5:n.829G>C | ||
| ENST00000547451.1:n.490G>C | ||
| NM_000785.3:c.690G>C | NP_000776.1:p.Val230= | |
| NM_000785.4:c.690G>C MANE Select | NP_000776.1:p.Val230= |