Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578653G>A , CM000672.2:g.110578653G>A | GRCh38 |
| NC_000010.10:g.112338411G>A , CM000672.1:g.112338411G>A | GRCh37 |
| NC_000010.9:g.112328401G>A | NCBI36 |
| NG_012217.1:g.15963G>A , LRG_774:g.15963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.509G>A | ||
| ENST00000687823.1:n.290G>A | ||
| ENST00000689932.1:n.2439G>A | ||
| ENST00000691297.1:n.509G>A | ||
| ENST00000691527.1:n.1179G>A | ||
| ENST00000692792.1:n.495G>A | ||
| ENST00000361804.5:c.376G>A MANE Select | ENSP00000354720.5:p.Glu126Lys | |
| ENST00000361804.4:c.376G>A | ENSP00000354720.4:p.Glu126Lys | |
| ENST00000462899.1:n.522G>A | ||
| NM_005445.3:c.376G>A , LRG_774t1:c.376G>A | NP_005436.1:p.Glu126Lys | |
| NM_005445.4:c.376G>A MANE Select | NP_005436.1:p.Glu126Lys |