Linked Data
MyVariant Identifiers:
chr5:g.135392453C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056764C>A , CM000667.2:g.136056764C>A | GRCh38 |
| NC_000005.9:g.135392453C>A , CM000667.1:g.135392453C>A | GRCh37 |
| NC_000005.8:g.135420352C>A | NCBI36 |
| NG_012646.1:g.32870C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1647C>A MANE Select | ENSP00000416330.2:p.Ala549= | |
| ENST00000442011.6:c.1647C>A | ENSP00000416330.2:p.Ala549= | |
| ENST00000506699.5:n.2164C>A | ||
| ENST00000507018.5:c.1625C>A | ||
| ENST00000509485.5:c.644C>A | ||
| ENST00000514242.5:n.418C>A | ||
| ENST00000514554.5:c.799C>A | ||
| NM_000358.2:c.1647C>A | NP_000349.1:p.Ala549= | |
| NM_000358.3:c.1647C>A MANE Select | NP_000349.1:p.Ala549= |