HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81649181A>T , CM000665.2:g.81649181A>T | GRCh38 |
NC_000003.11:g.81698332A>T , CM000665.1:g.81698332A>T | GRCh37 |
NC_000003.10:g.81781022A>T | NCBI36 |
NG_011810.1:g.117620T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.556-190T>A MANE Select | ENSP00000410833.2:n.556-190T>A | |
ENST00000429644.6:c.556-190T>A | ENSP00000410833.2:n.556-190T>A | |
ENST00000486920.1:n.552-190T>A | ||
ENST00000489715.1:c.433-190T>A | ENSP00000419638.1:n.433-190T>A | |
ENST00000498468.1:n.84-190T>A | ||
NM_000158.3:c.556-190T>A | NP_000149.3:n.556-190T>A | |
NM_000158.4:c.556-190T>A MANE Select | NP_000149.4:n.556-190T>A |