Linked Data
ClinVar Variation Id:
354845
ClinVar RCV Id:
RCV000358045
dbSNP Id:
rs886060943
gnomAD v2:
6-108190386-C-G
gnomAD v3:
6-107869182-C-G
gnomAD v4:
6-107869182-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107869182C>G , CM000668.2:g.107869182C>G | GRCh38 |
| NC_000006.11:g.108190386C>G , CM000668.1:g.108190386C>G | GRCh37 |
| NC_000006.10:g.108297079C>G | NCBI36 |
| NG_008270.1:g.94097G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*2522G>C MANE Select | ENSP00000357998.4:n.*2522G>C | |
| ENST00000369002.8:c.*2522G>C | ENSP00000357998.4:n.*2522G>C | |
| NM_007214.4:c.*2522G>C | NP_009145.1:n.*2522G>C | |
| NM_007214.5:c.*2522G>C MANE Select | NP_009145.1:n.*2522G>C |