Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589945A>T , CM000672.2:g.110589945A>T | GRCh38 |
| NC_000010.10:g.112349703A>T , CM000672.1:g.112349703A>T | GRCh37 |
| NC_000010.9:g.112339693A>T | NCBI36 |
| NG_012217.1:g.27255A>T , LRG_774:g.27255A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1363A>T | ||
| ENST00000684988.1:n.2108A>T | ||
| ENST00000687823.1:n.1377A>T | ||
| ENST00000689932.1:n.3526A>T | ||
| ENST00000691297.1:n.1596A>T | ||
| ENST00000691527.1:n.2266A>T | ||
| ENST00000692792.1:n.1582A>T | ||
| ENST00000361804.5:c.1463A>T MANE Select | ENSP00000354720.5:p.Glu488Val | |
| ENST00000361804.4:c.1463A>T | ENSP00000354720.4:p.Glu488Val | |
| NM_005445.3:c.1463A>T , LRG_774t1:c.1463A>T | NP_005436.1:p.Glu488Val | |
| NM_005445.4:c.1463A>T MANE Select | NP_005436.1:p.Glu488Val |