HGVS | Genome Assembly |
---|---|
NC_000017.11:g.35880422G>C , CM000679.2:g.35880422G>C | GRCh38 |
NC_000017.9:g.31231539G>C | NCBI36 |
NG_015990.1:g.4952C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000603197.6:c.-117C>G | ENSP00000474412.1:n.-117C>G | |
ENST00000605509.2:c.-17-100C>G | ENSP00000474141.2:n.-17-100C>G | |
ENST00000603197.5:c.-117C>G | ENSP00000474412.1:n.-117C>G | |
ENST00000605140.5:c.-17-100C>G | ENSP00000475057.1:n.-17-100C>G | |
XR_934696.1:n.197-3960G>C | ||
XR_934697.1:n.200-3960G>C | ||
XR_001752852.1:n.426+348G>C | ||
XR_934696.2:n.91-3960G>C | ||
XR_934697.2:n.91-3960G>C |