HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320361G>T , CM000667.2:g.159320361G>T | GRCh38 |
NC_000005.9:g.158747369G>T , CM000667.1:g.158747369G>T | GRCh37 |
NC_000005.8:g.158679947G>T | NCBI36 |
NG_009618.1:g.15113C>A , LRG_71:g.15113C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.12C>A | ENSP00000512849.1:p.Ala4= | |
ENST00000696751.1:c.*137C>A | ENSP00000512850.1:n.*137C>A | |
ENST00000231228.3:c.642C>A MANE Select | ENSP00000231228.2:p.Ala214= | |
ENST00000231228.2:c.642C>A | ENSP00000231228.2:p.Ala214= | |
NM_002187.2:c.642C>A , LRG_71t1:c.642C>A | NP_002178.2:p.Ala214= | |
NM_002187.3:c.642C>A MANE Select | NP_002178.2:p.Ala214= |