HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326217T>A , CM000678.2:g.2326217T>A | GRCh38 |
NC_000016.9:g.2376218T>A , CM000678.1:g.2376218T>A | GRCh37 |
NC_000016.8:g.2316219T>A | NCBI36 |
NG_011790.1:g.19530A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.112A>T MANE Select | ENSP00000301732.5:p.Ile38Phe | |
ENST00000301732.9:c.112A>T | ENSP00000301732.5:p.Ile38Phe | |
ENST00000382381.7:c.112A>T | ENSP00000371818.3:p.Ile38Phe | |
ENST00000563623.5:n.675A>T | ||
ENST00000567910.1:c.112A>T | ENSP00000454397.1:p.Ile38Phe | |
NM_001089.2:c.112A>T | NP_001080.2:p.Ile38Phe | |
NM_001089.3:c.112A>T MANE Select | NP_001080.2:p.Ile38Phe |