Linked Data
dbSNP Id:
rs1592114714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40197363G>C , CM000674.2:g.40197363G>C | GRCh38 |
| NC_000012.11:g.40591165G>C , CM000674.1:g.40591165G>C | GRCh37 |
| NC_000012.10:g.38877432G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416796.5:c.-63+590G>C | ENSP00000398726.1:n.-63+590G>C |