Linked Data
dbSNP Id:
rs2030290697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129601489T>C , CM000670.2:g.129601489T>C | GRCh38 |
| NC_000008.10:g.130613735T>C , CM000670.1:g.130613735T>C | GRCh37 |
| NC_000008.9:g.130682917T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.312+78439A>G |