HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981750A>T , CM000667.2:g.149981750A>T | GRCh38 |
NC_000005.9:g.149361313A>T , CM000667.1:g.149361313A>T | GRCh37 |
NC_000005.8:g.149341506A>T | NCBI36 |
NG_007147.2:g.22868A>T , LRG_684:g.22868A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.2157A>T MANE Select | ENSP00000286298.4:p.Ala719= | |
ENST00000286298.4:c.2157A>T | ENSP00000286298.4:p.Ala719= | |
ENST00000503336.1:c.372+3399A>T | ENSP00000426053.1:n.372+3399A>T | |
NM_000112.3:c.2157A>T , LRG_684t1:c.2157A>T | NP_000103.2:p.Ala719= | |
XM_017009191.2:c.2157A>T | XP_016864680.1:p.Ala719= | |
NM_000112.4:c.2157A>T MANE Select | NP_000103.2:p.Ala719= |