Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046358G>T , CM000667.2:g.136046358G>T | GRCh38 |
| NC_000005.9:g.135382047G>T , CM000667.1:g.135382047G>T | GRCh37 |
| NC_000005.8:g.135409946G>T | NCBI36 |
| NG_012646.1:g.22464G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.322G>T MANE Select | ENSP00000416330.2:p.Glu108Ter | |
| ENST00000442011.6:c.322G>T | ENSP00000416330.2:p.Glu108Ter | |
| ENST00000504185.5:n.479G>T | ||
| ENST00000506699.5:n.387G>T | ||
| ENST00000507018.5:c.239G>T | ||
| ENST00000515433.1:n.614G>T | ||
| NM_000358.2:c.322G>T | NP_000349.1:p.Glu108Ter | |
| NM_000358.3:c.322G>T MANE Select | NP_000349.1:p.Glu108Ter |