HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326161G>T , CM000678.2:g.2326161G>T | GRCh38 |
NC_000016.9:g.2376162G>T , CM000678.1:g.2376162G>T | GRCh37 |
NC_000016.8:g.2316163G>T | NCBI36 |
NG_011790.1:g.19586C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.168C>A MANE Select | ENSP00000301732.5:p.Ile56= | |
ENST00000301732.9:c.168C>A | ENSP00000301732.5:p.Ile56= | |
ENST00000382381.7:c.168C>A | ENSP00000371818.3:p.Ile56= | |
ENST00000563623.5:n.731C>A | ||
ENST00000567910.1:c.168C>A | ENSP00000454397.1:p.Ile56= | |
NM_001089.2:c.168C>A | NP_001080.2:p.Ile56= | |
NM_001089.3:c.168C>A MANE Select | NP_001080.2:p.Ile56= |