HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917358G>C , CM000674.2:g.102917358G>C | GRCh38 |
NC_000012.11:g.103311136G>C , CM000674.1:g.103311136G>C | GRCh37 |
NC_000012.10:g.101835266G>C | NCBI36 |
NG_008690.1:g.5246C>G | |
NG_008690.2:g.46053C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-133C>G | ||
ENST00000546844.1:c.-95-133C>G | ENSP00000446658.1:n.-95-133C>G | |
ENST00000547319.1:n.217-133C>G | ||
ENST00000551337.5:c.-95-133C>G | ENSP00000447620.1:n.-95-133C>G | |
ENST00000553106.5:c.-228C>G | ENSP00000448059.1:n.-228C>G | |
ENST00000635500.1:n.29-4460C>G | ||
NM_000277.1:c.-227C>G | NP_000268.1:n.-227C>G | |
NM_000277.2:c.-228C>G | NP_000268.1:n.-228C>G | |
NM_001354304.1:c.-95-133C>G | NP_001341233.1:n.-95-133C>G | |
NM_001354304.2:c.-95-133C>G | NP_001341233.1:n.-95-133C>G |