Linked Data
dbSNP Id:
rs2124591643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.3442C>T , J01415.2:m.3442C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361390.2:c.136C>T | ENSP00000354687.2:p.Leu46= |