HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765026G= , CM000674.2:g.57765026G= | GRCh38 |
NC_000012.11:g.58158809G= , CM000674.1:g.58158809G= | GRCh37 |
NC_000012.10:g.56445076G= | NCBI36 |
NG_007076.1:g.7168C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.687C= | ||
ENST00000713544.1:c.856C= | ENSP00000518840.1:p.Gln286= | |
ENST00000713545.1:c.833C= | ENSP00000518841.1:p.Pro278= | |
ENST00000228606.9:c.775C= MANE Select | ENSP00000228606.4:p.Gln259= | |
ENST00000228606.8:c.775C= | ENSP00000228606.4:p.Gln259= | |
ENST00000546567.5:c.70C= | ENSP00000449472.1:p.Gln24= | |
ENST00000546609.1:c.687C= | ||
ENST00000547344.5:n.914C= | ||
ENST00000547451.1:n.575C= | ||
NM_000785.3:c.775C= | NP_000776.1:p.Gln259= | |
NM_000785.4:c.775C= MANE Select | NP_000776.1:p.Gln259= |