HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765180C>T , CM000674.2:g.57765180C>T | GRCh38 |
NC_000012.11:g.58158963C>T , CM000674.1:g.58158963C>T | GRCh37 |
NC_000012.10:g.56445230C>T | NCBI36 |
NG_007076.1:g.7014G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.533G>A | ||
ENST00000713544.1:c.702G>A | ENSP00000518840.1:p.Leu234= | |
ENST00000713545.1:c.679G>A | ENSP00000518841.1:p.Gly227Arg | |
ENST00000228606.9:c.621G>A MANE Select | ENSP00000228606.4:p.Leu207= | |
ENST00000228606.8:c.621G>A | ENSP00000228606.4:p.Leu207= | |
ENST00000546567.5:c.-85G>A | ENSP00000449472.1:n.-85G>A | |
ENST00000546609.1:c.533G>A | ||
ENST00000547344.5:n.760G>A | ||
ENST00000547451.1:n.421G>A | ||
NM_000785.3:c.621G>A | NP_000776.1:p.Leu207= | |
NM_000785.4:c.621G>A MANE Select | NP_000776.1:p.Leu207= |