HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149980841G>T , CM000667.2:g.149980841G>T | GRCh38 |
NC_000005.9:g.149360404G>T , CM000667.1:g.149360404G>T | GRCh37 |
NC_000005.8:g.149340597G>T | NCBI36 |
NG_007147.2:g.21959G>T , LRG_684:g.21959G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286298.5:c.1248G>T MANE Select | ENSP00000286298.4:p.Gln416His | |
ENST00000286298.4:c.1248G>T | ENSP00000286298.4:p.Gln416His | |
ENST00000503336.1:c.372+2490G>T | ENSP00000426053.1:n.372+2490G>T | |
NM_000112.3:c.1248G>T , LRG_684t1:c.1248G>T | NP_000103.2:p.Gln416His | |
XM_017009191.2:c.1248G>T | XP_016864680.1:p.Gln416His | |
NM_000112.4:c.1248G>T MANE Select | NP_000103.2:p.Gln416His |