HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17293190A>C , CM000669.2:g.17293190A>C | GRCh38 |
NC_000007.13:g.17332814A>C , CM000669.1:g.17332814A>C | GRCh37 |
NC_000007.12:g.17299339A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000642825.1:c.-202-3107A>C | ENSP00000495987.1:n.-202-3107A>C | |
XR_927069.1:n.293+1976T>G | ||
XR_927070.1:n.293+1976T>G | ||
XR_927071.1:n.293+1976T>G | ||
XR_927072.1:n.294+1976T>G | ||
XR_927073.1:n.296-1819T>G | ||
XR_927073.2:n.296-1819T>G |