HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320318T>G , CM000667.2:g.159320318T>G | GRCh38 |
NC_000005.9:g.158747326T>G , CM000667.1:g.158747326T>G | GRCh37 |
NC_000005.8:g.158679904T>G | NCBI36 |
NG_009618.1:g.15156A>C , LRG_71:g.15156A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.55A>C | ENSP00000512849.1:p.Ile19Leu | |
ENST00000696751.1:c.*180A>C | ENSP00000512850.1:n.*180A>C | |
ENST00000231228.3:c.685A>C MANE Select | ENSP00000231228.2:p.Ile229Leu | |
ENST00000231228.2:c.685A>C | ENSP00000231228.2:p.Ile229Leu | |
NM_002187.2:c.685A>C , LRG_71t1:c.685A>C | NP_002178.2:p.Ile229Leu | |
NM_002187.3:c.685A>C MANE Select | NP_002178.2:p.Ile229Leu |