HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766166C>T , CM000674.2:g.57766166C>T | GRCh38 |
NC_000012.11:g.58159949C>T , CM000674.1:g.58159949C>T | GRCh37 |
NC_000012.10:g.56446216C>T | NCBI36 |
NG_007076.1:g.6028G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.139G>A | ||
ENST00000713544.1:c.227G>A | ENSP00000518840.1:p.Trp76Ter | |
ENST00000713545.1:c.227G>A | ENSP00000518841.1:p.Trp76Ter | |
ENST00000228606.9:c.227G>A MANE Select | ENSP00000228606.4:p.Trp76Ter | |
ENST00000228606.8:c.227G>A | ENSP00000228606.4:p.Trp76Ter | |
ENST00000546496.1:n.55G>A | ||
ENST00000546609.1:c.139G>A | ||
ENST00000547344.5:n.281G>A | ||
ENST00000552186.1:n.346G>A | ||
NM_000785.3:c.227G>A | NP_000776.1:p.Trp76Ter | |
NM_000785.4:c.227G>A MANE Select | NP_000776.1:p.Trp76Ter |