HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917400C>G , CM000674.2:g.102917400C>G | GRCh38 |
NC_000012.11:g.103311178C>G , CM000674.1:g.103311178C>G | GRCh37 |
NC_000012.10:g.101835308C>G | NCBI36 |
NG_008690.1:g.5204G>C | |
NG_008690.2:g.46011G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-175G>C | ||
ENST00000546844.1:c.-95-175G>C | ENSP00000446658.1:n.-95-175G>C | |
ENST00000547319.1:n.217-175G>C | ||
ENST00000551337.5:c.-95-175G>C | ENSP00000447620.1:n.-95-175G>C | |
ENST00000553106.5:c.-270G>C | ENSP00000448059.1:n.-270G>C | |
ENST00000635500.1:n.29-4502G>C | ||
NM_000277.1:c.-269G>C | NP_000268.1:n.-269G>C | |
NM_000277.2:c.-270G>C | NP_000268.1:n.-270G>C | |
NM_001354304.1:c.-95-175G>C | NP_001341233.1:n.-95-175G>C | |
NM_001354304.2:c.-95-175G>C | NP_001341233.1:n.-95-175G>C |