Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578650C>T , CM000672.2:g.110578650C>T | GRCh38 |
| NC_000010.10:g.112338408C>T , CM000672.1:g.112338408C>T | GRCh37 |
| NC_000010.9:g.112328398C>T | NCBI36 |
| NG_012217.1:g.15960C>T , LRG_774:g.15960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.506C>T | ||
| ENST00000687823.1:n.287C>T | ||
| ENST00000689932.1:n.2436C>T | ||
| ENST00000691297.1:n.506C>T | ||
| ENST00000691527.1:n.1176C>T | ||
| ENST00000692792.1:n.492C>T | ||
| ENST00000361804.5:c.373C>T MANE Select | ENSP00000354720.5:p.Leu125Phe | |
| ENST00000361804.4:c.373C>T | ENSP00000354720.4:p.Leu125Phe | |
| ENST00000462899.1:n.519C>T | ||
| NM_005445.3:c.373C>T , LRG_774t1:c.373C>T | NP_005436.1:p.Leu125Phe | |
| NM_005445.4:c.373C>T MANE Select | NP_005436.1:p.Leu125Phe |