Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862841G>T , CM000666.2:g.4862841G>T | GRCh38 |
| NC_000004.11:g.4864568G>T , CM000666.1:g.4864568G>T | GRCh37 |
| NC_000004.10:g.4915469G>T | NCBI36 |
| NG_008121.1:g.8177G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.610G>T MANE Select | ENSP00000372170.4:p.Glu204Ter | |
| ENST00000382723.4:c.610G>T | ENSP00000372170.4:p.Glu204Ter | |
| ENST00000468421.1:n.322G>T | ||
| NM_002448.3:c.610G>T MANE Select | NP_002439.2:p.Glu204Ter |