Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312780A>G , CM000673.2:g.118312780A>G | GRCh38 |
| NC_000011.9:g.118183495A>G , CM000673.1:g.118183495A>G | GRCh37 |
| NC_000011.8:g.117688705A>G | NCBI36 |
| NG_007383.1:g.13201A>G , LRG_38:g.13201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.266A>G MANE Select | ENSP00000354566.4:p.Glu89Gly | |
| ENST00000361763.8:c.266A>G | ENSP00000354566.4:p.Glu89Gly | |
| ENST00000526146.5:n.812A>G | ||
| ENST00000528435.5:n.819A>G | ||
| ENST00000528600.1:c.248A>G | ENSP00000433975.1:p.Glu83Gly | |
| ENST00000529713.5:n.372A>G | ||
| ENST00000531913.1:n.637A>G | ||
| NM_000733.3:c.266A>G , LRG_38t1:c.266A>G | NP_000724.1:p.Glu89Gly | |
| NM_000733.4:c.266A>G MANE Select | NP_000724.1:p.Glu89Gly |