Linked Data
ClinVar Variation Id:
2507259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431572A>G , CM000663.2:g.229431572A>G | GRCh38 |
| NC_000001.10:g.229567319A>G , CM000663.1:g.229567319A>G | GRCh37 |
| NC_000001.9:g.227633942A>G | NCBI36 |
| NG_006672.1:g.7525T>C , LRG_429:g.7525T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-8T>C | ENSP00000355644.4:n.991-8T>C | |
| ENST00000684723.1:c.926T>C | ENSP00000508084.1:p.Phe309Ser | |
| ENST00000366683.3:c.692T>C | ENSP00000355644.3:p.Phe231Ser | |
| ENST00000366684.7:c.1061T>C MANE Select | ENSP00000355645.3:p.Phe354Ser | |
| NM_001100.3:c.1061T>C , LRG_429t1:c.1061T>C | NP_001091.1:p.Phe354Ser | |
| NM_001100.4:c.1061T>C MANE Select | NP_001091.1:p.Phe354Ser |