Linked Data
ClinVar Variation Id:
339349
ClinVar RCV Id:
RCV000344316
dbSNP Id:
rs886056930
gnomAD v2:
20-62526528-G-C
gnomAD v3:
20-63895175-G-C
gnomAD v4:
20-63895175-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63895175G>C , CM000682.2:g.63895175G>C | GRCh38 |
| NC_000020.10:g.62526528G>C , CM000682.1:g.62526528G>C | GRCh37 |
| NC_000020.9:g.61996972G>C | NCBI36 |
| NG_029805.1:g.5074G>C | |
| NG_029805.2:g.5074G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360864.9:c.-160G>C MANE Select | ENSP00000354111.4:n.-160G>C | |
| NM_025219.2:c.-160G>C | NP_079495.1:n.-160G>C | |
| NM_025219.3:c.-160G>C MANE Select | NP_079495.1:n.-160G>C |