Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589923C>G , CM000672.2:g.110589923C>G | GRCh38 |
| NC_000010.10:g.112349681C>G , CM000672.1:g.112349681C>G | GRCh37 |
| NC_000010.9:g.112339671C>G | NCBI36 |
| NG_012217.1:g.27233C>G , LRG_774:g.27233C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1341C>G | ||
| ENST00000684988.1:n.2086C>G | ||
| ENST00000687823.1:n.1355C>G | ||
| ENST00000689932.1:n.3504C>G | ||
| ENST00000691297.1:n.1574C>G | ||
| ENST00000691527.1:n.2244C>G | ||
| ENST00000692792.1:n.1560C>G | ||
| ENST00000361804.5:c.1441C>G MANE Select | ENSP00000354720.5:p.Gln481Glu | |
| ENST00000361804.4:c.1441C>G | ENSP00000354720.4:p.Gln481Glu | |
| NM_005445.3:c.1441C>G , LRG_774t1:c.1441C>G | NP_005436.1:p.Gln481Glu | |
| NM_005445.4:c.1441C>G MANE Select | NP_005436.1:p.Gln481Glu |