HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917360C>A , CM000674.2:g.102917360C>A | GRCh38 |
NC_000012.11:g.103311138C>A , CM000674.1:g.103311138C>A | GRCh37 |
NC_000012.10:g.101835268C>A | NCBI36 |
NG_008690.1:g.5244G>T | |
NG_008690.2:g.46051G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-135G>T | ||
ENST00000546844.1:c.-95-135G>T | ENSP00000446658.1:n.-95-135G>T | |
ENST00000547319.1:n.217-135G>T | ||
ENST00000551337.5:c.-95-135G>T | ENSP00000447620.1:n.-95-135G>T | |
ENST00000553106.5:c.-230G>T | ENSP00000448059.1:n.-230G>T | |
ENST00000635500.1:n.29-4462G>T | ||
NM_000277.1:c.-229G>T | NP_000268.1:n.-229G>T | |
NM_000277.2:c.-230G>T | NP_000268.1:n.-230G>T | |
NM_001354304.1:c.-95-135G>T | NP_001341233.1:n.-95-135G>T | |
NM_001354304.2:c.-95-135G>T | NP_001341233.1:n.-95-135G>T |