HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17293297T>G , CM000669.2:g.17293297T>G | GRCh38 |
NC_000007.13:g.17332921T>G , CM000669.1:g.17332921T>G | GRCh37 |
NC_000007.12:g.17299446T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000642825.1:c.-202-3000T>G | ENSP00000495987.1:n.-202-3000T>G | |
XR_927069.1:n.293+1869A>C | ||
XR_927070.1:n.293+1869A>C | ||
XR_927071.1:n.293+1869A>C | ||
XR_927072.1:n.294+1869A>C | ||
XR_927073.1:n.295+1869A>C | ||
XR_927073.2:n.295+1869A>C |