Linked Data
MyVariant Identifiers:
chr12:g.58158331C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764548C>A , CM000674.2:g.57764548C>A | GRCh38 |
| NC_000012.11:g.58158331C>A , CM000674.1:g.58158331C>A | GRCh37 |
| NC_000012.10:g.56444598C>A | NCBI36 |
| NG_007076.1:g.7646G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1047G>T | ENSP00000518840.1:p.Val349= | |
| ENST00000713545.1:c.1024G>T | ENSP00000518841.1:p.Val342Phe | |
| ENST00000228606.9:c.966G>T MANE Select | ENSP00000228606.4:p.Val322= | |
| ENST00000228606.8:c.966G>T | ENSP00000228606.4:p.Val322= | |
| ENST00000546567.5:c.261G>T | ENSP00000449472.1:p.Val87= | |
| ENST00000547344.5:n.1105G>T | ||
| ENST00000547451.1:n.969G>T | ||
| NM_000785.3:c.966G>T | NP_000776.1:p.Val322= | |
| NM_000785.4:c.966G>T MANE Select | NP_000776.1:p.Val322= |