HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917341C>G , CM000674.2:g.102917341C>G | GRCh38 |
NC_000012.11:g.103311119C>G , CM000674.1:g.103311119C>G | GRCh37 |
NC_000012.10:g.101835249C>G | NCBI36 |
NG_008690.1:g.5263G>C | |
NG_008690.2:g.46070G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-116G>C | ||
ENST00000546844.1:c.-95-116G>C | ENSP00000446658.1:n.-95-116G>C | |
ENST00000547319.1:n.217-116G>C | ||
ENST00000551337.5:c.-95-116G>C | ENSP00000447620.1:n.-95-116G>C | |
ENST00000553106.5:c.-211G>C | ENSP00000448059.1:n.-211G>C | |
ENST00000635500.1:n.29-4443G>C | ||
NM_000277.1:c.-210G>C | NP_000268.1:n.-210G>C | |
NM_000277.2:c.-211G>C | NP_000268.1:n.-211G>C | |
NM_001354304.1:c.-95-116G>C | NP_001341233.1:n.-95-116G>C | |
NM_001354304.2:c.-95-116G>C | NP_001341233.1:n.-95-116G>C |