Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586509A>G , CM000673.2:g.67586509A>G | GRCh38 |
| NC_000011.9:g.67353980A>G , CM000673.1:g.67353980A>G | GRCh37 |
| NC_000011.8:g.67110556A>G | NCBI36 |
| NG_012075.1:g.7915A>G , LRG_723:g.7915A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.457A>G | ENSP00000381604.1:p.Lys153Glu | |
| ENST00000398606.10:c.565A>G MANE Select | ENSP00000381607.3:p.Lys189Glu | |
| ENST00000398603.5:c.457A>G | ENSP00000381604.1:p.Lys153Glu | |
| ENST00000398606.7:c.565A>G | ENSP00000381607.3:p.Lys189Glu | |
| ENST00000467591.1:n.676A>G | ||
| ENST00000494593.1:n.1537A>G | ||
| ENST00000498765.5:c.628A>G | ||
| NM_000852.3:c.565A>G , LRG_723t1:c.565A>G | NP_000843.1:p.Lys189Glu | |
| NM_000852.4:c.565A>G MANE Select | NP_000843.1:p.Lys189Glu |