Linked Data
dbSNP Id:
rs1010393974
gnomAD v3:
1-17392038-C-G
gnomAD v4:
1-17392038-C-G
MyVariant Identifiers:
chr1:g.17392038C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392038C>G , CM000663.2:g.17392038C>G | GRCh38 |
| NG_032943.1:g.24793C>G | |
| NG_032943.2:g.24793C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.963-76C>G MANE Select | ENSP00000483125.1:n.963-76C>G | |
| NM_207421.4:c.963-76C>G MANE Select | NP_997304.3:n.963-76C>G |