HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281373G>A , CM000678.2:g.11281373G>A | GRCh38 |
NC_000016.9:g.11375230G>A , CM000678.1:g.11375230G>A | GRCh37 |
NC_000016.8:g.11282731G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649869.1:n.152+31595G>A | ||
ENST00000572173.1:c.-515-13843G>A | ENSP00000461206.1:n.-515-13843G>A | |
ENST00000573910.1:n.160+31595G>A | ||
XR_933070.1:n.733+31595G>A | ||
XR_933070.3:n.876+31595G>A |