Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573739T>G , CM000672.2:g.110573739T>G | GRCh38 |
| NC_000010.10:g.112333497T>G , CM000672.1:g.112333497T>G | GRCh37 |
| NC_000010.9:g.112323487T>G | NCBI36 |
| NG_012217.1:g.11049T>G , LRG_774:g.11049T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.257T>G | ||
| ENST00000687823.1:n.45-1597T>G | ||
| ENST00000689932.1:n.597T>G | ||
| ENST00000691297.1:n.257T>G | ||
| ENST00000691527.1:n.214T>G | ||
| ENST00000692792.1:n.243T>G | ||
| ENST00000361804.5:c.124T>G MANE Select | ENSP00000354720.5:p.Phe42Val | |
| ENST00000361804.4:c.124T>G | ENSP00000354720.4:p.Phe42Val | |
| ENST00000462899.1:n.270T>G | ||
| NM_005445.3:c.124T>G , LRG_774t1:c.124T>G | NP_005436.1:p.Phe42Val | |
| NM_005445.4:c.124T>G MANE Select | NP_005436.1:p.Phe42Val |