Linked Data
ClinVar Variation Id:
1630151
ClinVar RCV Id:
RCV002120963
dbSNP Id:
rs1830344643
gnomAD v4:
9-127817186-G-A
MyVariant Identifiers:
chr9:g.130579465G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127817186G>A , CM000671.2:g.127817186G>A | GRCh38 |
| NC_000009.11:g.130579465G>A , CM000671.1:g.130579465G>A | GRCh37 |
| NC_000009.10:g.129619286G>A | NCBI36 |
| NG_009551.1:g.42583C>T , LRG_589:g.42583C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1158C>T | ENSP00000479015.1:p.Val386= | |
| ENST00000373203.9:c.1704C>T MANE Select | ENSP00000362299.4:p.Val568= | |
| ENST00000344849.4:c.1704C>T | ENSP00000341917.3:p.Val568= | |
| ENST00000373203.8:c.1704C>T | ENSP00000362299.4:p.Val568= | |
| ENST00000480266.5:c.1158C>T | ENSP00000479015.1:p.Val386= | |
| NM_000118.3:c.1704C>T , LRG_589t1:c.1704C>T | NP_000109.1:p.Val568= | |
| NM_001114753.2:c.1704C>T , LRG_589t2:c.1704C>T | NP_001108225.1:p.Val568= | |
| NM_001278138.1:c.1158C>T | NP_001265067.1:p.Val386= | |
| NR_136302.1:n.1121G>A | ||
| NM_001114753.3:c.1704C>T MANE Select | NP_001108225.1:p.Val568= | |
| NM_001278138.2:c.1158C>T | NP_001265067.1:p.Val386= |