HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117479518A>G , CM000669.2:g.117479518A>G | GRCh38 |
NC_000007.13:g.117119572A>G , CM000669.1:g.117119572A>G | GRCh37 |
NC_000007.12:g.116906808A>G | NCBI36 |
NG_016465.4:g.18735A>G , LRG_663:g.18735A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000446805.2:c.-367A>G | ENSP00000417012.1:n.-367A>G | |
ENST00000673785.1:c.-406+13687A>G | ENSP00000501235.1:n.-406+13687A>G | |
ENST00000446805.1:c.-367A>G | ENSP00000417012.1:n.-367A>G | |
ENST00000546407.1:n.166+3710A>G | ||
XM_011515751.1:c.143+173A>G | XP_011514053.1:n.143+173A>G | |
XM_011515752.1:c.143+173A>G | XP_011514054.1:n.143+173A>G | |
XM_011515753.1:c.-367A>G | XP_011514055.1:n.-367A>G | |
XM_011515754.1:c.-695A>G | XP_011514056.1:n.-695A>G |