Linked Data
ClinVar Variation Id:
328899
ClinVar RCV Id:
RCV000350401
dbSNP Id:
rs886054354
gnomAD v3:
19-35995211-C-G
gnomAD v4:
19-35995211-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35995211C>G , CM000681.2:g.35995211C>G | GRCh38 |
| NC_000019.9:g.36486113C>G , CM000681.1:g.36486113C>G | GRCh37 |
| NC_000019.8:g.41177953C>G | NCBI36 |
| NG_016869.1:g.5024C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378887.4:c.-64C>G MANE Select | ENSP00000368165.2:n.-64C>G | |
| ENST00000378887.3:c.-64C>G | ENSP00000368165.2:n.-64C>G | |
| NM_001042631.2:c.-64C>G | NP_001036096.1:n.-64C>G | |
| NM_001042631.3:c.-64C>G MANE Select | NP_001036096.2:n.-64C>G |