Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154758C>T , CM000668.2:g.3154758C>T | GRCh38 |
| NC_000006.11:g.3154992C>T , CM000668.1:g.3154992C>T | GRCh37 |
| NC_000006.10:g.3099991C>T | NCBI36 |
| NG_042223.1:g.7792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.443G>A MANE Select | ENSP00000369703.2:p.Gly148Asp | |
| ENST00000679400.1:n.499G>A | ||
| ENST00000679907.1:n.831G>A | ||
| ENST00000680036.1:n.1225G>A | ||
| ENST00000680967.1:n.1533G>A | ||
| ENST00000333628.3:c.443G>A | ENSP00000369703.2:p.Gly148Asp | |
| ENST00000489942.1:n.638G>A | ||
| NM_001069.2:c.443G>A | NP_001060.1:p.Gly148Asp | |
| NM_001310315.1:c.188G>A | NP_001297244.1:p.Gly63Asp | |
| NM_001069.3:c.443G>A MANE Select | NP_001060.1:p.Gly148Asp | |
| NM_001310315.2:c.188G>A | NP_001297244.1:p.Gly63Asp |