Linked Data
dbSNP Id:
rs200649188
gnomAD v4:
1-17392178-G-T
MyVariant Identifiers:
chr1:g.17392178G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392178G>T , CM000663.2:g.17392178G>T | GRCh38 |
| NG_032943.1:g.24933G>T | |
| NG_032943.2:g.24933G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1027G>T MANE Select | ENSP00000483125.1:p.Val343Leu | |
| NM_207421.4:c.1027G>T MANE Select | NP_997304.3:p.Val343Leu |