HGVS | Genome Assembly |
---|---|
NC_000004.12:g.103656247T>G , CM000666.2:g.103656247T>G | GRCh38 |
NC_000004.11:g.104577404T>G , CM000666.1:g.104577404T>G | GRCh37 |
NC_000004.10:g.104796853T>G | NCBI36 |
NG_023344.1:g.68570A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304883.3:c.835A>C MANE Select | ENSP00000303325.2:p.Ile279Leu | |
ENST00000304883.2:c.835A>C | ENSP00000303325.2:p.Ile279Leu | |
NM_001059.2:c.835A>C | NP_001050.1:p.Ile279Leu | |
NM_001059.3:c.835A>C MANE Select | NP_001050.1:p.Ile279Leu |