Linked Data
dbSNP Id:
rs2068696454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.5957A>T , J01415.2:m.5957A>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361624.2:c.54A>T | ENSP00000354499.2:p.Leu18= |