Linked Data
ClinVar Variation Id:
2580975
ClinVar RCV Id:
RCV003330210
dbSNP Id:
rs2067392338
gnomAD v4:
20-10658388-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658388T>C , CM000682.2:g.10658388T>C | GRCh38 |
| NC_000020.10:g.10639036T>C , CM000682.1:g.10639036T>C | GRCh37 |
| NC_000020.9:g.10587036T>C | NCBI36 |
| NG_007496.1:g.20659A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+80A>G MANE Select | ENSP00000254958.4:n.694+80A>G | |
| ENST00000254958.9:c.694+80A>G | ENSP00000254958.4:n.694+80A>G | |
| ENST00000423891.6:n.560+80A>G | ||
| NM_000214.2:c.694+80A>G | NP_000205.1:n.694+80A>G | |
| NM_000214.3:c.694+80A>G MANE Select | NP_000205.1:n.694+80A>G |