HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281477G>T , CM000678.2:g.11281477G>T | GRCh38 |
NC_000016.9:g.11375334G>T , CM000678.1:g.11375334G>T | GRCh37 |
NC_000016.8:g.11282835G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649869.1:n.152+31699G>T | ||
ENST00000572173.1:c.-515-13739G>T | ENSP00000461206.1:n.-515-13739G>T | |
ENST00000573910.1:n.160+31699G>T | ||
XR_933070.1:n.733+31699G>T | ||
XR_933070.3:n.876+31699G>T |