HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42763286G>T , CM000668.2:g.42763286G>T | GRCh38 |
NC_000006.11:g.42731024G>T , CM000668.1:g.42731024G>T | GRCh37 |
NC_000006.10:g.42839002G>T | NCBI36 |
NG_054763.1:g.21329G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614467.4:c.-261+16263G>T | ENSP00000482211.1:n.-261+16263G>T | |
XR_926809.1:n.919+3352G>T | ||
XR_926810.1:n.904+3352G>T | ||
XR_926811.1:n.1175+3352G>T | ||
NM_001318819.1:c.-365+16263G>T | NP_001305748.1:n.-365+16263G>T | |
NM_001318819.2:c.-365+16263G>T | NP_001305748.1:n.-365+16263G>T |