HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527586A>G , CM000681.2:g.7527586A>G | GRCh38 |
NC_000019.9:g.7592472A>G , CM000681.1:g.7592472A>G | GRCh37 |
NC_000019.8:g.7498472A>G | NCBI36 |
NG_015806.1:g.9977A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.638A>G MANE Select | ENSP00000264079.5:p.Glu213Gly | |
ENST00000264079.10:c.638A>G | ENSP00000264079.5:p.Glu213Gly | |
ENST00000394321.9:n.718A>G | ||
ENST00000598406.1:n.459A>G | ||
ENST00000601003.1:c.572-278A>G | ENSP00000469074.1:n.572-278A>G | |
NM_020533.2:c.638A>G | NP_065394.1:p.Glu213Gly | |
NM_020533.3:c.638A>G MANE Select | NP_065394.1:p.Glu213Gly |