HGVS | Genome Assembly |
---|---|
NC_000007.14:g.117479873C>T , CM000669.2:g.117479873C>T | GRCh38 |
NC_000007.13:g.117119927C>T , CM000669.1:g.117119927C>T | GRCh37 |
NC_000007.12:g.116907163C>T | NCBI36 |
NG_016465.4:g.19090C>T , LRG_663:g.19090C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000446805.2:c.-191+179C>T | ENSP00000417012.1:n.-191+179C>T | |
ENST00000673785.1:c.-406+14042C>T | ENSP00000501235.1:n.-406+14042C>T | |
ENST00000446805.1:c.-191+179C>T | ENSP00000417012.1:n.-191+179C>T | |
ENST00000546407.1:n.166+4065C>T | ||
XM_011515751.1:c.143+528C>T | XP_011514053.1:n.143+528C>T | |
XM_011515752.1:c.143+528C>T | XP_011514054.1:n.143+528C>T | |
XM_011515753.1:c.-191+179C>T | XP_011514055.1:n.-191+179C>T | |
XM_011515754.1:c.-519+179C>T | XP_011514056.1:n.-519+179C>T |