Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578647C>A , CM000672.2:g.110578647C>A | GRCh38 |
| NC_000010.10:g.112338405C>A , CM000672.1:g.112338405C>A | GRCh37 |
| NC_000010.9:g.112328395C>A | NCBI36 |
| NG_012217.1:g.15957C>A , LRG_774:g.15957C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.503C>A | ||
| ENST00000687823.1:n.284C>A | ||
| ENST00000689932.1:n.2433C>A | ||
| ENST00000691297.1:n.503C>A | ||
| ENST00000691527.1:n.1173C>A | ||
| ENST00000692792.1:n.489C>A | ||
| ENST00000361804.5:c.370C>A MANE Select | ENSP00000354720.5:p.Leu124Ile | |
| ENST00000361804.4:c.370C>A | ENSP00000354720.4:p.Leu124Ile | |
| ENST00000462899.1:n.516C>A | ||
| NM_005445.3:c.370C>A , LRG_774t1:c.370C>A | NP_005436.1:p.Leu124Ile | |
| NM_005445.4:c.370C>A MANE Select | NP_005436.1:p.Leu124Ile |