HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320374A>T , CM000667.2:g.159320374A>T | GRCh38 |
NC_000005.9:g.158747382A>T , CM000667.1:g.158747382A>T | GRCh37 |
NC_000005.8:g.158679960A>T | NCBI36 |
NG_009618.1:g.15100T>A , LRG_71:g.15100T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-2T>A | ENSP00000512849.1:n.-2T>A | |
ENST00000696751.1:c.*124T>A | ENSP00000512850.1:n.*124T>A | |
ENST00000231228.3:c.629T>A MANE Select | ENSP00000231228.2:p.Val210Asp | |
ENST00000231228.2:c.629T>A | ENSP00000231228.2:p.Val210Asp | |
NM_002187.2:c.629T>A , LRG_71t1:c.629T>A | NP_002178.2:p.Val210Asp | |
NM_002187.3:c.629T>A MANE Select | NP_002178.2:p.Val210Asp |