HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154132G>T , CM000681.2:g.55154132G>T | GRCh38 |
NC_000019.9:g.55665500G>T , CM000681.1:g.55665500G>T | GRCh37 |
NC_000019.8:g.60357312G>T | NCBI36 |
NG_007866.2:g.8601C>A , LRG_432:g.8601C>A | |
NG_011829.2:g.107C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.447C>A MANE Select | ENSP00000341838.5:p.Ile149= | |
ENST00000665070.1:c.480C>A | ENSP00000499482.1:p.Ile160= | |
ENST00000344887.9:c.447C>A | ENSP00000341838.5:p.Ile149= | |
ENST00000585806.5:n.446C>A | ||
ENST00000586669.5:n.455C>A | ||
ENST00000588882.1:c.372C>A | ENSP00000466729.1:p.Ile124= | |
ENST00000589864.1:n.275C>A | ||
NM_000363.4:c.447C>A , LRG_432t1:c.447C>A | NP_000354.4:p.Ile149= | |
NM_000363.5:c.447C>A MANE Select | NP_000354.4:p.Ile149= |