Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286452G>T , CM000667.2:g.10286452G>T | GRCh38 |
| NC_000005.9:g.10286564G>T , CM000667.1:g.10286564G>T | GRCh37 |
| NC_000005.8:g.10339564G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.368C>A MANE Select | ENSP00000296658.3:p.Ala123Asp | |
| ENST00000296658.3:c.368C>A | ENSP00000296658.3:p.Ala123Asp | |
| ENST00000506821.1:n.622C>A | ||
| ENST00000510532.5:n.436C>A | ||
| ENST00000511963.5:n.476C>A | ||
| NM_138809.3:c.368C>A | NP_620164.1:p.Ala123Asp | |
| NM_138809.4:c.368C>A MANE Select | NP_620164.1:p.Ala123Asp |