Linked Data
ClinVar Variation Id:
574807
ClinVar RCV Id:
RCV002233320
dbSNP Id:
rs774709924
ExAC:
9:130587231 T / C
gnomAD v2:
9-130587231-T-C
gnomAD v4:
9-127824952-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824952T>C , CM000671.2:g.127824952T>C | GRCh38 |
| NC_000009.11:g.130587231T>C , CM000671.1:g.130587231T>C | GRCh37 |
| NC_000009.10:g.129627052T>C | NCBI36 |
| NG_009551.1:g.34817A>G , LRG_589:g.34817A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.293A>G | ENSP00000479015.1:p.Lys98Arg | |
| ENST00000373203.9:c.839A>G MANE Select | ENSP00000362299.4:p.Lys280Arg | |
| ENST00000344849.4:c.839A>G | ENSP00000341917.3:p.Lys280Arg | |
| ENST00000373203.8:c.839A>G | ENSP00000362299.4:p.Lys280Arg | |
| ENST00000480266.5:c.293A>G | ENSP00000479015.1:p.Lys98Arg | |
| NM_000118.3:c.839A>G , LRG_589t1:c.839A>G | NP_000109.1:p.Lys280Arg | |
| NM_001114753.2:c.839A>G , LRG_589t2:c.839A>G | NP_001108225.1:p.Lys280Arg | |
| NM_001278138.1:c.293A>G | NP_001265067.1:p.Lys98Arg | |
| NM_001114753.3:c.839A>G MANE Select | NP_001108225.1:p.Lys280Arg | |
| NM_001278138.2:c.293A>G | NP_001265067.1:p.Lys98Arg |