HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149980468A>T , CM000667.2:g.149980468A>T | GRCh38 |
NC_000005.9:g.149360031A>T , CM000667.1:g.149360031A>T | GRCh37 |
NC_000005.8:g.149340224A>T | NCBI36 |
NG_007147.2:g.21586A>T , LRG_684:g.21586A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.875A>T MANE Select | ENSP00000286298.4:p.His292Leu | |
ENST00000286298.4:c.875A>T | ENSP00000286298.4:p.His292Leu | |
ENST00000503336.1:c.372+2117A>T | ENSP00000426053.1:n.372+2117A>T | |
NM_000112.3:c.875A>T , LRG_684t1:c.875A>T | NP_000103.2:p.His292Leu | |
XM_017009191.2:c.875A>T | XP_016864680.1:p.His292Leu | |
NM_000112.4:c.875A>T MANE Select | NP_000103.2:p.His292Leu |