HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67993705C>T , CM000673.2:g.67993705C>T | GRCh38 |
NC_000011.9:g.67761176C>T , CM000673.1:g.67761176C>T | GRCh37 |
NC_000011.8:g.67517752C>T | NCBI36 |
NG_007581.1:g.15419G>A , LRG_123:g.15419G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227471.7:c.1453G>A MANE Select | ENSP00000227471.3:p.Val485Met | |
ENST00000227471.6:c.1453G>A | ENSP00000227471.3:p.Val485Met | |
ENST00000525368.1:n.460G>A | ||
ENST00000610659.4:n.255-2343G>A | ||
NM_030930.3:c.1453G>A | NP_112192.2:p.Val485Met | |
XM_011545290.1:c.1042G>A | XP_011543592.1:p.Val348Met | |
XM_011545291.1:c.898G>A | XP_011543593.1:p.Val300Met | |
XM_011545291.2:c.898G>A | XP_011543593.1:p.Val300Met | |
NM_030930.4:c.1453G>A MANE Select | NP_112192.2:p.Val485Met |