HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117479114A>G , CM000669.2:g.117479114A>G | GRCh38 |
NC_000007.13:g.117119168A>G , CM000669.1:g.117119168A>G | GRCh37 |
NC_000007.12:g.116906404A>G | NCBI36 |
NG_016465.4:g.18331A>G , LRG_663:g.18331A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000446805.2:c.-525-130A>G | ENSP00000417012.1:n.-525-130A>G | |
ENST00000673785.1:c.-406+13283A>G | ENSP00000501235.1:n.-406+13283A>G | |
ENST00000546407.1:n.166+3306A>G | ||
XM_011515751.1:c.42-130A>G | XP_011514053.1:n.42-130A>G | |
XM_011515752.1:c.42-130A>G | XP_011514054.1:n.42-130A>G | |
XM_011515754.1:c.-983A>G | XP_011514056.1:n.-983A>G |