Linked Data
dbSNP Id:
rs2043605971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15581032C>G , CM000686.2:g.15581032C>G | GRCh38 |
| NC_000024.9:g.17692912C>G , CM000686.1:g.17692912C>G | GRCh37 |
| NC_000024.8:g.16202306C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412493.1:n.1051-12199C>G |