Linked Data
MyVariant Identifiers:
chr1:g.17392195G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392195G>C , CM000663.2:g.17392195G>C | GRCh38 |
| NG_032943.1:g.24950G>C | |
| NG_032943.2:g.24950G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1044G>C MANE Select | ENSP00000483125.1:p.Glu348Asp | |
| NM_207421.4:c.1044G>C MANE Select | NP_997304.3:p.Glu348Asp |