HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917348A>T , CM000674.2:g.102917348A>T | GRCh38 |
NC_000012.11:g.103311126A>T , CM000674.1:g.103311126A>T | GRCh37 |
NC_000012.10:g.101835256A>T | NCBI36 |
NG_008690.1:g.5256T>A | |
NG_008690.2:g.46063T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-123T>A | ||
ENST00000546844.1:c.-95-123T>A | ENSP00000446658.1:n.-95-123T>A | |
ENST00000547319.1:n.217-123T>A | ||
ENST00000551337.5:c.-95-123T>A | ENSP00000447620.1:n.-95-123T>A | |
ENST00000553106.5:c.-218T>A | ENSP00000448059.1:n.-218T>A | |
ENST00000635500.1:n.29-4450T>A | ||
NM_000277.1:c.-217T>A | NP_000268.1:n.-217T>A | |
NM_000277.2:c.-218T>A | NP_000268.1:n.-218T>A | |
NM_001354304.1:c.-95-123T>A | NP_001341233.1:n.-95-123T>A | |
NM_001354304.2:c.-95-123T>A | NP_001341233.1:n.-95-123T>A |