HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117479934T>A , CM000669.2:g.117479934T>A | GRCh38 |
NC_000007.13:g.117119988T>A , CM000669.1:g.117119988T>A | GRCh37 |
NC_000007.12:g.116907224T>A | NCBI36 |
NG_016465.4:g.19151T>A , LRG_663:g.19151T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000446805.2:c.-191+240T>A | ENSP00000417012.1:n.-191+240T>A | |
ENST00000673785.1:c.-406+14103T>A | ENSP00000501235.1:n.-406+14103T>A | |
ENST00000446805.1:c.-191+240T>A | ENSP00000417012.1:n.-191+240T>A | |
ENST00000546407.1:n.166+4126T>A | ||
XM_011515751.1:c.143+589T>A | XP_011514053.1:n.143+589T>A | |
XM_011515752.1:c.143+589T>A | XP_011514054.1:n.143+589T>A | |
XM_011515753.1:c.-191+240T>A | XP_011514055.1:n.-191+240T>A | |
XM_011515754.1:c.-518-214T>A | XP_011514056.1:n.-518-214T>A |