HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917366G>C , CM000674.2:g.102917366G>C | GRCh38 |
NC_000012.11:g.103311144G>C , CM000674.1:g.103311144G>C | GRCh37 |
NC_000012.10:g.101835274G>C | NCBI36 |
NG_008690.1:g.5238C>G | |
NG_008690.2:g.46045C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-141C>G | ||
ENST00000546844.1:c.-95-141C>G | ENSP00000446658.1:n.-95-141C>G | |
ENST00000547319.1:n.217-141C>G | ||
ENST00000551337.5:c.-95-141C>G | ENSP00000447620.1:n.-95-141C>G | |
ENST00000553106.5:c.-236C>G | ENSP00000448059.1:n.-236C>G | |
ENST00000635500.1:n.29-4468C>G | ||
NM_000277.1:c.-235C>G | NP_000268.1:n.-235C>G | |
NM_000277.2:c.-236C>G | NP_000268.1:n.-236C>G | |
NM_001354304.1:c.-95-141C>G | NP_001341233.1:n.-95-141C>G | |
NM_001354304.2:c.-95-141C>G | NP_001341233.1:n.-95-141C>G |