HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117479539G>C , CM000669.2:g.117479539G>C | GRCh38 |
NC_000007.13:g.117119593G>C , CM000669.1:g.117119593G>C | GRCh37 |
NC_000007.12:g.116906829G>C | NCBI36 |
NG_016465.4:g.18756G>C , LRG_663:g.18756G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000446805.2:c.-346G>C | ENSP00000417012.1:n.-346G>C | |
ENST00000673785.1:c.-406+13708G>C | ENSP00000501235.1:n.-406+13708G>C | |
ENST00000446805.1:c.-346G>C | ENSP00000417012.1:n.-346G>C | |
ENST00000546407.1:n.166+3731G>C | ||
XM_011515751.1:c.143+194G>C | XP_011514053.1:n.143+194G>C | |
XM_011515752.1:c.143+194G>C | XP_011514054.1:n.143+194G>C | |
XM_011515753.1:c.-346G>C | XP_011514055.1:n.-346G>C | |
XM_011515754.1:c.-674G>C | XP_011514056.1:n.-674G>C |