Linked Data
dbSNP Id:
rs2117054972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2649342T>A , CM000670.2:g.2649342T>A | GRCh38 |
| NC_000008.10:g.2506859T>A , CM000670.1:g.2506859T>A | GRCh37 |
| NC_000008.9:g.2494266T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125425.1:n.238+25388A>T |