Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056739C>A , CM000667.2:g.136056739C>A | GRCh38 |
| NC_000005.9:g.135392428C>A , CM000667.1:g.135392428C>A | GRCh37 |
| NC_000005.8:g.135420327C>A | NCBI36 |
| NG_012646.1:g.32845C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1622C>A MANE Select | ENSP00000416330.2:p.Ala541Asp | |
| ENST00000442011.6:c.1622C>A | ENSP00000416330.2:p.Ala541Asp | |
| ENST00000506699.5:n.2139C>A | ||
| ENST00000507018.5:c.1600C>A | ||
| ENST00000509485.5:c.619C>A | ||
| ENST00000514242.5:n.393C>A | ||
| ENST00000514554.5:c.774C>A | ||
| NM_000358.2:c.1622C>A | NP_000349.1:p.Ala541Asp | |
| NM_000358.3:c.1622C>A MANE Select | NP_000349.1:p.Ala541Asp |