HGVS | Genome Assembly |
---|---|
NC_000004.12:g.103656266A>C , CM000666.2:g.103656266A>C | GRCh38 |
NC_000004.11:g.104577423A>C , CM000666.1:g.104577423A>C | GRCh37 |
NC_000004.10:g.104796872A>C | NCBI36 |
NG_023344.1:g.68551T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304883.3:c.816T>G MANE Select | ENSP00000303325.2:p.Ile272Met | |
ENST00000304883.2:c.816T>G | ENSP00000303325.2:p.Ile272Met | |
NM_001059.2:c.816T>G | NP_001050.1:p.Ile272Met | |
NM_001059.3:c.816T>G MANE Select | NP_001050.1:p.Ile272Met |