HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271102T= , CM000668.2:g.31271102T= | GRCh38 |
NC_000006.11:g.31238879T= , CM000668.1:g.31238879T= | GRCh37 |
NC_000006.10:g.31346858T= | NCBI36 |
NG_029422.2:g.6030A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.590A= MANE Select | ENSP00000365402.5:p.Glu197= | |
ENST00000376228.9:c.590A= | ENSP00000365402.5:p.Glu197= | |
ENST00000376237.8:c.*177A= | ENSP00000365412.4:n.*177A= | |
ENST00000383329.7:c.590A= | ENSP00000372819.3:p.Glu197= | |
ENST00000415537.1:c.588A= | ||
ENST00000484378.1:n.859A= | ||
ENST00000487245.5:n.949A= | ||
ENST00000495835.1:n.779A= | ||
NM_002117.5:c.590A= | NP_002108.4:p.Glu197= | |
NM_002117.6:c.590A= MANE Select | NP_002108.4:p.Glu197= |