Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941964A>T , CM000672.2:g.94941964A>T | GRCh38 |
| NC_000010.10:g.96701721A>T , CM000672.1:g.96701721A>T | GRCh37 |
| NC_000010.9:g.96691711A>T | NCBI36 |
| NG_008385.1:g.8307A>T | |
| NG_008385.2:g.8807A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.275A>T MANE Select | ENSP00000260682.6:p.Glu92Val | |
| ENST00000643112.1:c.275A>T | ENSP00000496202.1:p.Glu92Val | |
| ENST00000645207.1:n.428A>T | ||
| ENST00000260682.6:c.275A>T | ENSP00000260682.6:p.Glu92Val | |
| ENST00000461906.1:n.300A>T | ||
| ENST00000473496.1:n.46A>T | ||
| NM_000771.3:c.275A>T | NP_000762.2:p.Glu92Val | |
| NM_000771.4:c.275A>T MANE Select | NP_000762.2:p.Glu92Val |