HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326270C>A , CM000678.2:g.2326270C>A | GRCh38 |
NC_000016.9:g.2376271C>A , CM000678.1:g.2376271C>A | GRCh37 |
NC_000016.8:g.2316272C>A | NCBI36 |
NG_011790.1:g.19477G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.59G>T MANE Select | ENSP00000301732.5:p.Arg20Leu | |
ENST00000301732.9:c.59G>T | ENSP00000301732.5:p.Arg20Leu | |
ENST00000382381.7:c.59G>T | ENSP00000371818.3:p.Arg20Leu | |
ENST00000563623.5:n.622G>T | ||
ENST00000567910.1:c.59G>T | ENSP00000454397.1:p.Arg20Leu | |
NM_001089.2:c.59G>T | NP_001080.2:p.Arg20Leu | |
NM_001089.3:c.59G>T MANE Select | NP_001080.2:p.Arg20Leu |