HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766040C>T , CM000674.2:g.57766040C>T | GRCh38 |
NC_000012.11:g.58159823C>T , CM000674.1:g.58159823C>T | GRCh37 |
NC_000012.10:g.56446090C>T | NCBI36 |
NG_007076.1:g.6154G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.265G>A | ||
ENST00000713544.1:c.353G>A | ENSP00000518840.1:p.Arg118His | |
ENST00000713545.1:c.353G>A | ENSP00000518841.1:p.Arg118His | |
ENST00000228606.9:c.353G>A MANE Select | ENSP00000228606.4:p.Arg118His | |
ENST00000228606.8:c.353G>A | ENSP00000228606.4:p.Arg118His | |
ENST00000546496.1:n.181G>A | ||
ENST00000546609.1:c.265G>A | ||
ENST00000547344.5:n.407G>A | ||
ENST00000552186.1:n.472G>A | ||
NM_000785.3:c.353G>A | NP_000776.1:p.Arg118His | |
NM_000785.4:c.353G>A MANE Select | NP_000776.1:p.Arg118His |