HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917308G>A , CM000674.2:g.102917308G>A | GRCh38 |
NC_000012.11:g.103311086G>A , CM000674.1:g.103311086G>A | GRCh37 |
NC_000012.10:g.101835216G>A | NCBI36 |
NG_008690.1:g.5296C>T | |
NG_008690.2:g.46103C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-83C>T | ||
ENST00000546844.1:c.-95-83C>T | ENSP00000446658.1:n.-95-83C>T | |
ENST00000547319.1:n.217-83C>T | ||
ENST00000551337.5:c.-95-83C>T | ENSP00000447620.1:n.-95-83C>T | |
ENST00000553106.5:c.-178C>T | ENSP00000448059.1:n.-178C>T | |
ENST00000635500.1:n.29-4410C>T | ||
NM_000277.1:c.-177C>T | NP_000268.1:n.-177C>T | |
NM_000277.2:c.-178C>T | NP_000268.1:n.-178C>T | |
NM_001354304.1:c.-95-83C>T | NP_001341233.1:n.-95-83C>T | |
NM_001354304.2:c.-95-83C>T | NP_001341233.1:n.-95-83C>T |