HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917383G>T , CM000674.2:g.102917383G>T | GRCh38 |
NC_000012.11:g.103311161G>T , CM000674.1:g.103311161G>T | GRCh37 |
NC_000012.10:g.101835291G>T | NCBI36 |
NG_008690.1:g.5221C>A | |
NG_008690.2:g.46028C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-158C>A | ||
ENST00000546844.1:c.-95-158C>A | ENSP00000446658.1:n.-95-158C>A | |
ENST00000547319.1:n.217-158C>A | ||
ENST00000551337.5:c.-95-158C>A | ENSP00000447620.1:n.-95-158C>A | |
ENST00000553106.5:c.-253C>A | ENSP00000448059.1:n.-253C>A | |
ENST00000635500.1:n.29-4485C>A | ||
NM_000277.1:c.-252C>A | NP_000268.1:n.-252C>A | |
NM_000277.2:c.-253C>A | NP_000268.1:n.-253C>A | |
NM_001354304.1:c.-95-158C>A | NP_001341233.1:n.-95-158C>A | |
NM_001354304.2:c.-95-158C>A | NP_001341233.1:n.-95-158C>A |