HGVS | Genome Assembly |
---|---|
NC_000017.11:g.35880405G>T , CM000679.2:g.35880405G>T | GRCh38 |
NC_000017.9:g.31231522G>T | NCBI36 |
NG_015990.1:g.4969C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000603197.6:c.-100C>A | ENSP00000474412.1:n.-100C>A | |
ENST00000605509.2:c.-17-83C>A | ENSP00000474141.2:n.-17-83C>A | |
ENST00000603197.5:c.-100C>A | ENSP00000474412.1:n.-100C>A | |
ENST00000605140.5:c.-17-83C>A | ENSP00000475057.1:n.-17-83C>A | |
XR_934696.1:n.197-3977G>T | ||
XR_934697.1:n.200-3977G>T | ||
XR_001752852.1:n.426+331G>T | ||
XR_934696.2:n.91-3977G>T | ||
XR_934697.2:n.91-3977G>T |