Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110581937A>G , CM000672.2:g.110581937A>G | GRCh38 |
| NC_000010.10:g.112341695A>G , CM000672.1:g.112341695A>G | GRCh37 |
| NC_000010.9:g.112331685A>G | NCBI36 |
| NG_012217.1:g.19247A>G , LRG_774:g.19247A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684988.1:n.695A>G | ||
| ENST00000687823.1:n.476A>G | ||
| ENST00000689932.1:n.2625A>G | ||
| ENST00000691297.1:n.695A>G | ||
| ENST00000691527.1:n.1365A>G | ||
| ENST00000692792.1:n.681A>G | ||
| ENST00000361804.5:c.562A>G MANE Select | ENSP00000354720.5:p.Lys188Glu | |
| ENST00000361804.4:c.562A>G | ENSP00000354720.4:p.Lys188Glu | |
| ENST00000462899.1:n.708A>G | ||
| NM_005445.3:c.562A>G , LRG_774t1:c.562A>G | NP_005436.1:p.Lys188Glu | |
| NM_005445.4:c.562A>G MANE Select | NP_005436.1:p.Lys188Glu |