Linked Data
ClinVar Variation Id:
908902
ClinVar RCV Id:
RCV001159667
dbSNP Id:
rs56240093
gnomAD v2:
6-97338498-T-C
gnomAD v3:
6-96890622-T-C
gnomAD v4:
6-96890622-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96890622T>C , CM000668.2:g.96890622T>C | GRCh38 |
| NC_000006.11:g.97338498T>C , CM000668.1:g.97338498T>C | GRCh37 |
| NC_000006.10:g.97445219T>C | NCBI36 |
| NG_013379.1:g.12270A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.*482A>G MANE Select | ENSP00000358272.4:n.*482A>G | |
| ENST00000316149.7:c.*482A>G | ENSP00000358272.4:n.*482A>G | |
| NM_014165.3:c.*482A>G | NP_054884.1:n.*482A>G | |
| NM_014165.4:c.*482A>G MANE Select | NP_054884.1:n.*482A>G |