HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320375C>T , CM000667.2:g.159320375C>T | GRCh38 |
NC_000005.9:g.158747383C>T , CM000667.1:g.158747383C>T | GRCh37 |
NC_000005.8:g.158679961C>T | NCBI36 |
NG_009618.1:g.15099G>A , LRG_71:g.15099G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-3G>A | ENSP00000512849.1:n.-3G>A | |
ENST00000696751.1:c.*123G>A | ENSP00000512850.1:n.*123G>A | |
ENST00000231228.3:c.628G>A MANE Select | ENSP00000231228.2:p.Val210Ile | |
ENST00000231228.2:c.628G>A | ENSP00000231228.2:p.Val210Ile | |
NM_002187.2:c.628G>A , LRG_71t1:c.628G>A | NP_002178.2:p.Val210Ile | |
NM_002187.3:c.628G>A MANE Select | NP_002178.2:p.Val210Ile |