HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117478691G>A , CM000669.2:g.117478691G>A | GRCh38 |
NC_000007.13:g.117118745G>A , CM000669.1:g.117118745G>A | GRCh37 |
NC_000007.12:g.116905981G>A | NCBI36 |
NG_016465.4:g.17908G>A , LRG_663:g.17908G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000446805.2:c.-526+269G>A | ENSP00000417012.1:n.-526+269G>A | |
ENST00000673785.1:c.-406+12860G>A | ENSP00000501235.1:n.-406+12860G>A | |
ENST00000546407.1:n.166+2883G>A | ||
XM_011515751.1:c.41+269G>A | XP_011514053.1:n.41+269G>A | |
XM_011515752.1:c.41+269G>A | XP_011514054.1:n.41+269G>A |