Linked Data
dbSNP Id:
rs2030290512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129601474G>A , CM000670.2:g.129601474G>A | GRCh38 |
| NC_000008.10:g.130613720G>A , CM000670.1:g.130613720G>A | GRCh37 |
| NC_000008.9:g.130682902G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.312+78454C>T |