HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320520G>T , CM000667.2:g.159320520G>T | GRCh38 |
NC_000005.9:g.158747528G>T , CM000667.1:g.158747528G>T | GRCh37 |
NC_000005.8:g.158680106G>T | NCBI36 |
NG_009618.1:g.14954C>A , LRG_71:g.14954C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148C>A | ENSP00000512849.1:n.-148C>A | |
ENST00000696751.1:c.365C>A | ENSP00000512850.1:p.Ala122Asp | |
ENST00000231228.3:c.483C>A MANE Select | ENSP00000231228.2:p.Gly161= | |
ENST00000231228.2:c.483C>A | ENSP00000231228.2:p.Gly161= | |
NM_002187.2:c.483C>A , LRG_71t1:c.483C>A | NP_002178.2:p.Gly161= | |
XR_001742945.1:n.71G>T | ||
NM_002187.3:c.483C>A MANE Select | NP_002178.2:p.Gly161= |