Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578654A>G , CM000672.2:g.110578654A>G | GRCh38 |
| NC_000010.10:g.112338412A>G , CM000672.1:g.112338412A>G | GRCh37 |
| NC_000010.9:g.112328402A>G | NCBI36 |
| NG_012217.1:g.15964A>G , LRG_774:g.15964A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684988.1:n.510A>G | ||
| ENST00000687823.1:n.291A>G | ||
| ENST00000689932.1:n.2440A>G | ||
| ENST00000691297.1:n.510A>G | ||
| ENST00000691527.1:n.1180A>G | ||
| ENST00000692792.1:n.496A>G | ||
| ENST00000361804.5:c.377A>G MANE Select | ENSP00000354720.5:p.Glu126Gly | |
| ENST00000361804.4:c.377A>G | ENSP00000354720.4:p.Glu126Gly | |
| ENST00000462899.1:n.523A>G | ||
| NM_005445.3:c.377A>G , LRG_774t1:c.377A>G | NP_005436.1:p.Glu126Gly | |
| NM_005445.4:c.377A>G MANE Select | NP_005436.1:p.Glu126Gly |