HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320309T>C , CM000667.2:g.159320309T>C | GRCh38 |
NC_000005.9:g.158747317T>C , CM000667.1:g.158747317T>C | GRCh37 |
NC_000005.8:g.158679895T>C | NCBI36 |
NG_009618.1:g.15165A>G , LRG_71:g.15165A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.64A>G | ENSP00000512849.1:p.Ile22Val | |
ENST00000696751.1:c.*189A>G | ENSP00000512850.1:n.*189A>G | |
ENST00000231228.3:c.694A>G MANE Select | ENSP00000231228.2:p.Ile232Val | |
ENST00000231228.2:c.694A>G | ENSP00000231228.2:p.Ile232Val | |
NM_002187.2:c.694A>G , LRG_71t1:c.694A>G | NP_002178.2:p.Ile232Val | |
NM_002187.3:c.694A>G MANE Select | NP_002178.2:p.Ile232Val |