Linked Data
MyVariant Identifiers:
chr5:g.135382076C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046387C>A , CM000667.2:g.136046387C>A | GRCh38 |
| NC_000005.9:g.135382076C>A , CM000667.1:g.135382076C>A | GRCh37 |
| NC_000005.8:g.135409975C>A | NCBI36 |
| NG_012646.1:g.22493C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.351C>A MANE Select | ENSP00000416330.2:p.Thr117= | |
| ENST00000442011.6:c.351C>A | ENSP00000416330.2:p.Thr117= | |
| ENST00000504185.5:n.508C>A | ||
| ENST00000506699.5:n.416C>A | ||
| ENST00000507018.5:c.268C>A | ||
| ENST00000515433.1:n.643C>A | ||
| NM_000358.2:c.351C>A | NP_000349.1:p.Thr117= | |
| NM_000358.3:c.351C>A MANE Select | NP_000349.1:p.Thr117= |