Linked Data
dbSNP Id:
rs1688512944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203856865T>C , CM000664.2:g.203856865T>C | GRCh38 |
| NC_000002.11:g.204721588T>C , CM000664.1:g.204721588T>C | GRCh37 |
| NC_000002.10:g.204429833T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.47+2789T>C | ENSP00000512655.1:n.47+2789T>C | |
| XR_923797.1:n.225-5608T>C |