Linked Data
dbSNP Id:
rs2117643545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11577737G>C , CM000670.2:g.11577737G>C | GRCh38 |
| NC_000008.10:g.11435246G>C , CM000670.1:g.11435246G>C | GRCh37 |
| NC_000008.9:g.11472655G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040035.1:n.783+420G>C |