Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046371T>A , CM000667.2:g.136046371T>A | GRCh38 |
| NC_000005.9:g.135382060T>A , CM000667.1:g.135382060T>A | GRCh37 |
| NC_000005.8:g.135409959T>A | NCBI36 |
| NG_012646.1:g.22477T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.335T>A MANE Select | ENSP00000416330.2:p.Val112Asp | |
| ENST00000442011.6:c.335T>A | ENSP00000416330.2:p.Val112Asp | |
| ENST00000504185.5:n.492T>A | ||
| ENST00000506699.5:n.400T>A | ||
| ENST00000507018.5:c.252T>A | ||
| ENST00000515433.1:n.627T>A | ||
| NM_000358.2:c.335T>A | NP_000349.1:p.Val112Asp | |
| NM_000358.3:c.335T>A MANE Select | NP_000349.1:p.Val112Asp |