Linked Data
dbSNP Id:
rs1489212749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174221357G>C , CM000667.2:g.174221357G>C | GRCh38 |
| NC_000005.9:g.173648360G>C , CM000667.1:g.173648360G>C | GRCh37 |
| NC_000005.8:g.173580966G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521585.5:c.*18+16053G>C | ENSP00000429863.1:n.*18+16053G>C |