HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320362G>A , CM000667.2:g.159320362G>A | GRCh38 |
NC_000005.9:g.158747370G>A , CM000667.1:g.158747370G>A | GRCh37 |
NC_000005.8:g.158679948G>A | NCBI36 |
NG_009618.1:g.15112C>T , LRG_71:g.15112C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.11C>T | ENSP00000512849.1:p.Ala4Val | |
ENST00000696751.1:c.*136C>T | ENSP00000512850.1:n.*136C>T | |
ENST00000231228.3:c.641C>T MANE Select | ENSP00000231228.2:p.Ala214Val | |
ENST00000231228.2:c.641C>T | ENSP00000231228.2:p.Ala214Val | |
NM_002187.2:c.641C>T , LRG_71t1:c.641C>T | NP_002178.2:p.Ala214Val | |
NM_002187.3:c.641C>T MANE Select | NP_002178.2:p.Ala214Val |