HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917354C>T , CM000674.2:g.102917354C>T | GRCh38 |
NC_000012.11:g.103311132C>T , CM000674.1:g.103311132C>T | GRCh37 |
NC_000012.10:g.101835262C>T | NCBI36 |
NG_008690.1:g.5250G>A | |
NG_008690.2:g.46057G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-129G>A | ||
ENST00000546844.1:c.-95-129G>A | ENSP00000446658.1:n.-95-129G>A | |
ENST00000547319.1:n.217-129G>A | ||
ENST00000551337.5:c.-95-129G>A | ENSP00000447620.1:n.-95-129G>A | |
ENST00000553106.5:c.-224G>A | ENSP00000448059.1:n.-224G>A | |
ENST00000635500.1:n.29-4456G>A | ||
NM_000277.1:c.-223G>A | NP_000268.1:n.-223G>A | |
NM_000277.2:c.-224G>A | NP_000268.1:n.-224G>A | |
NM_001354304.1:c.-95-129G>A | NP_001341233.1:n.-95-129G>A | |
NM_001354304.2:c.-95-129G>A | NP_001341233.1:n.-95-129G>A |