HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17293475A>T , CM000669.2:g.17293475A>T | GRCh38 |
NC_000007.13:g.17333099A>T , CM000669.1:g.17333099A>T | GRCh37 |
NC_000007.12:g.17299624A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642825.1:c.-202-2822A>T | ENSP00000495987.1:n.-202-2822A>T | |
XR_927069.1:n.293+1691T>A | ||
XR_927070.1:n.293+1691T>A | ||
XR_927071.1:n.293+1691T>A | ||
XR_927072.1:n.294+1691T>A | ||
XR_927073.1:n.295+1691T>A | ||
XR_927073.2:n.295+1691T>A |