Linked Data
ClinVar Variation Id:
1731024
ClinVar RCV Id:
RCV002452033
dbSNP Id:
rs1217908512
gnomAD v2:
9-130616602-G-A
gnomAD v4:
9-127854323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854323G>A , CM000671.2:g.127854323G>A | GRCh38 |
| NC_000009.11:g.130616602G>A , CM000671.1:g.130616602G>A | GRCh37 |
| NC_000009.10:g.129656423G>A | NCBI36 |
| NG_009551.1:g.5446C>T , LRG_589:g.5446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.33C>T MANE Select | ENSP00000362299.4:p.Ala11= | |
| ENST00000344849.4:c.33C>T | ENSP00000341917.3:p.Ala11= | |
| ENST00000373203.8:c.33C>T | ENSP00000362299.4:p.Ala11= | |
| NM_000118.3:c.33C>T , LRG_589t1:c.33C>T | NP_000109.1:p.Ala11= | |
| NM_001114753.2:c.33C>T , LRG_589t2:c.33C>T | NP_001108225.1:p.Ala11= | |
| NM_001114753.3:c.33C>T MANE Select | NP_001108225.1:p.Ala11= |