Linked Data
ClinVar Variation Id:
2582795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432036G>C , CM000663.2:g.229432036G>C | GRCh38 |
| NC_000001.10:g.229567783G>C , CM000663.1:g.229567783G>C | GRCh37 |
| NC_000001.9:g.227634406G>C | NCBI36 |
| NG_006672.1:g.7061C>G , LRG_429:g.7061C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.766C>G | ENSP00000355644.4:p.Arg256Gly | |
| ENST00000684723.1:c.631C>G | ENSP00000508084.1:p.Arg211Gly | |
| ENST00000366683.3:c.480-174C>G | ENSP00000355644.3:n.480-174C>G | |
| ENST00000366684.7:c.766C>G MANE Select | ENSP00000355645.3:p.Arg256Gly | |
| NM_001100.3:c.766C>G , LRG_429t1:c.766C>G | NP_001091.1:p.Arg256Gly | |
| NM_001100.4:c.766C>G MANE Select | NP_001091.1:p.Arg256Gly |