HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147571499C>T , CM000669.2:g.147571499C>T | GRCh38 |
NC_000007.13:g.147268591C>T , CM000669.1:g.147268591C>T | GRCh37 |
NC_000007.12:g.146899524C>T | NCBI36 |
NG_007092.2:g.1460139C>T | |
NG_007092.3:g.1460499C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1897+9242C>T MANE Select | ENSP00000354778.3:n.1897+9242C>T | |
ENST00000636870.1:n.1759+9242C>T | ||
ENST00000637825.1:n.1380+9242C>T | ||
ENST00000638117.1:n.1800+9242C>T | ||
ENST00000361727.7:c.1897+9242C>T | ENSP00000354778.3:n.1897+9242C>T | |
NM_014141.5:c.1897+9242C>T | NP_054860.1:n.1897+9242C>T | |
XM_006715919.1:c.385+9242C>T | XP_006715982.1:n.385+9242C>T | |
XM_017011950.2:c.1897+9242C>T | XP_016867439.1:n.1897+9242C>T | |
NM_014141.6:c.1897+9242C>T MANE Select | NP_054860.1:n.1897+9242C>T |