Linked Data
dbSNP Id:
rs2068737954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.13800C>T , J01415.2:m.13800C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361567.2:c.1464C>T | ENSP00000354813.2:p.Leu488= |