HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506880A>C , CM000672.2:g.122506880A>C | GRCh38 |
NC_000010.10:g.124266396A>C , CM000672.1:g.124266396A>C | GRCh37 |
NC_000010.9:g.124256386A>C | NCBI36 |
NG_011554.1:g.50356A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.967A>C MANE Select | ENSP00000357980.3:p.Ile323Leu | |
ENST00000648167.1:c.649A>C | ENSP00000498033.1:p.Ile217Leu | |
ENST00000368984.7:c.967A>C | ENSP00000357980.3:p.Ile323Leu | |
ENST00000420892.1:c.190A>C | ENSP00000412676.1:p.Ile64Leu | |
NM_002775.4:c.967A>C | NP_002766.1:p.Ile323Leu | |
NM_002775.5:c.967A>C MANE Select | NP_002766.1:p.Ile323Leu |