Linked Data
MyVariant Identifiers:
chr5:g.135382043T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046354T>A , CM000667.2:g.136046354T>A | GRCh38 |
| NC_000005.9:g.135382043T>A , CM000667.1:g.135382043T>A | GRCh37 |
| NC_000005.8:g.135409942T>A | NCBI36 |
| NG_012646.1:g.22460T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.318T>A MANE Select | ENSP00000416330.2:p.Leu106= | |
| ENST00000442011.6:c.318T>A | ENSP00000416330.2:p.Leu106= | |
| ENST00000504185.5:n.475T>A | ||
| ENST00000506699.5:n.383T>A | ||
| ENST00000507018.5:c.235T>A | ||
| ENST00000515433.1:n.610T>A | ||
| NM_000358.2:c.318T>A | NP_000349.1:p.Leu106= | |
| NM_000358.3:c.318T>A MANE Select | NP_000349.1:p.Leu106= |