Linked Data
ClinVar Variation Id:
1590363
dbSNP Id:
rs1830570141
MyVariant Identifiers:
chr9:g.130587200G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824921G>A , CM000671.2:g.127824921G>A | GRCh38 |
| NC_000009.11:g.130587200G>A , CM000671.1:g.130587200G>A | GRCh37 |
| NC_000009.10:g.129627021G>A | NCBI36 |
| NG_009551.1:g.34848C>T , LRG_589:g.34848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.324C>T | ENSP00000479015.1:p.Phe108= | |
| ENST00000373203.9:c.870C>T MANE Select | ENSP00000362299.4:p.Phe290= | |
| ENST00000344849.4:c.870C>T | ENSP00000341917.3:p.Phe290= | |
| ENST00000373203.8:c.870C>T | ENSP00000362299.4:p.Phe290= | |
| ENST00000480266.5:c.324C>T | ENSP00000479015.1:p.Phe108= | |
| NM_000118.3:c.870C>T , LRG_589t1:c.870C>T | NP_000109.1:p.Phe290= | |
| NM_001114753.2:c.870C>T , LRG_589t2:c.870C>T | NP_001108225.1:p.Phe290= | |
| NM_001278138.1:c.324C>T | NP_001265067.1:p.Phe108= | |
| NM_001114753.3:c.870C>T MANE Select | NP_001108225.1:p.Phe290= | |
| NM_001278138.2:c.324C>T | NP_001265067.1:p.Phe108= |