Linked Data
dbSNP Id:
rs2052998230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.11957499dup , CM000686.2:g.11957499dup | GRCh38 |
| NC_000024.9:g.14078205dup , CM000686.1:g.14078205dup | GRCh37 |
| NC_000024.8:g.12588205dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420610.1:n.192+100dup |