HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50837538G>A , CM000681.2:g.50837538G>A | GRCh38 |
NC_000019.9:g.51340794G>A , CM000681.1:g.51340794G>A | GRCh37 |
NC_000019.8:g.56032606G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
NR_131203.1:n.213+6245G>A | ||
NR_131205.1:n.230+6245G>A | ||
XR_936030.1:n.298+6245G>A | ||
XR_936031.1:n.298+6245G>A | ||
XR_936032.1:n.298+6245G>A | ||
XR_936033.1:n.294+6245G>A | ||
XR_936035.1:n.281+6245G>A |