HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92637504C>A , CM000672.2:g.92637504C>A | GRCh38 |
NC_000010.10:g.94397261C>A , CM000672.1:g.94397261C>A | GRCh37 |
NC_000010.9:g.94387241C>A | NCBI36 |
NG_032580.1:g.49437C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2119C>A MANE Select | ENSP00000260731.3:p.Leu707Ile | |
ENST00000676621.1:c.*637C>A | ENSP00000503639.1:n.*637C>A | |
ENST00000676647.1:c.1912C>A | ENSP00000503394.1:p.Leu638Ile | |
ENST00000676757.1:c.1912C>A | ENSP00000504289.1:p.Leu638Ile | |
ENST00000677720.1:c.*93C>A | ENSP00000504840.1:n.*93C>A | |
ENST00000260731.4:c.2119C>A | ENSP00000260731.3:p.Leu707Ile | |
NM_004523.3:c.2119C>A | NP_004514.2:p.Leu707Ile | |
NM_004523.4:c.2119C>A MANE Select | NP_004514.2:p.Leu707Ile |