Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589902A>T , CM000672.2:g.110589902A>T | GRCh38 |
| NC_000010.10:g.112349660A>T , CM000672.1:g.112349660A>T | GRCh37 |
| NC_000010.9:g.112339650A>T | NCBI36 |
| NG_012217.1:g.27212A>T , LRG_774:g.27212A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1320A>T | ||
| ENST00000684988.1:n.2065A>T | ||
| ENST00000687823.1:n.1334A>T | ||
| ENST00000689932.1:n.3483A>T | ||
| ENST00000691297.1:n.1553A>T | ||
| ENST00000691527.1:n.2223A>T | ||
| ENST00000692792.1:n.1539A>T | ||
| ENST00000361804.5:c.1420A>T MANE Select | ENSP00000354720.5:p.Arg474Ter | |
| ENST00000361804.4:c.1420A>T | ENSP00000354720.4:p.Arg474Ter | |
| NM_005445.3:c.1420A>T , LRG_774t1:c.1420A>T | NP_005436.1:p.Arg474Ter | |
| NM_005445.4:c.1420A>T MANE Select | NP_005436.1:p.Arg474Ter |