HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117479410C>G , CM000669.2:g.117479410C>G | GRCh38 |
NC_000007.13:g.117119464C>G , CM000669.1:g.117119464C>G | GRCh37 |
NC_000007.12:g.116906700C>G | NCBI36 |
NG_016465.4:g.18627C>G , LRG_663:g.18627C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000446805.2:c.-423-52C>G | ENSP00000417012.1:n.-423-52C>G | |
ENST00000673785.1:c.-406+13579C>G | ENSP00000501235.1:n.-406+13579C>G | |
ENST00000446805.1:c.-423-52C>G | ENSP00000417012.1:n.-423-52C>G | |
ENST00000546407.1:n.166+3602C>G | ||
XM_011515751.1:c.143+65C>G | XP_011514053.1:n.143+65C>G | |
XM_011515752.1:c.143+65C>G | XP_011514054.1:n.143+65C>G | |
XM_011515753.1:c.-423-52C>G | XP_011514055.1:n.-423-52C>G | |
XM_011515754.1:c.-751-52C>G | XP_011514056.1:n.-751-52C>G |