Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764520C>G , CM000674.2:g.57764520C>G | GRCh38 |
| NC_000012.11:g.58158303C>G , CM000674.1:g.58158303C>G | GRCh37 |
| NC_000012.10:g.56444570C>G | NCBI36 |
| NG_007076.1:g.7674G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1075G>C | ENSP00000518840.1:p.Glu359Gln | |
| ENST00000713545.1:c.1052G>C | ENSP00000518841.1:p.Ter351Ser | |
| ENST00000228606.9:c.994G>C MANE Select | ENSP00000228606.4:p.Glu332Gln | |
| ENST00000228606.8:c.994G>C | ENSP00000228606.4:p.Glu332Gln | |
| ENST00000546567.5:c.289G>C | ENSP00000449472.1:p.Glu97Gln | |
| ENST00000547344.5:n.1133G>C | ||
| NM_000785.3:c.994G>C | NP_000776.1:p.Glu332Gln | |
| NM_000785.4:c.994G>C MANE Select | NP_000776.1:p.Glu332Gln |