HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117479645A>T , CM000669.2:g.117479645A>T | GRCh38 |
NC_000007.13:g.117119699A>T , CM000669.1:g.117119699A>T | GRCh37 |
NC_000007.12:g.116906935A>T | NCBI36 |
NG_016465.4:g.18862A>T , LRG_663:g.18862A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000446805.2:c.-240A>T | ENSP00000417012.1:n.-240A>T | |
ENST00000673785.1:c.-406+13814A>T | ENSP00000501235.1:n.-406+13814A>T | |
ENST00000446805.1:c.-240A>T | ENSP00000417012.1:n.-240A>T | |
ENST00000546407.1:n.166+3837A>T | ||
XM_011515751.1:c.143+300A>T | XP_011514053.1:n.143+300A>T | |
XM_011515752.1:c.143+300A>T | XP_011514054.1:n.143+300A>T | |
XM_011515753.1:c.-240A>T | XP_011514055.1:n.-240A>T | |
XM_011515754.1:c.-568A>T | XP_011514056.1:n.-568A>T |