HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271212C= , CM000668.2:g.31271212C= | GRCh38 |
NC_000006.11:g.31238989C= , CM000668.1:g.31238989C= | GRCh37 |
NC_000006.10:g.31346968C= | NCBI36 |
NG_029422.2:g.5920G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.480G= MANE Select | ENSP00000365402.5:p.Ala160= | |
ENST00000376228.9:c.480G= | ENSP00000365402.5:p.Ala160= | |
ENST00000376237.8:c.*67G= | ENSP00000365412.4:n.*67G= | |
ENST00000383329.7:c.480G= | ENSP00000372819.3:p.Ala160= | |
ENST00000415537.1:c.478G= | ||
ENST00000484378.1:n.749G= | ||
ENST00000487245.5:n.839G= | ||
ENST00000495835.1:n.669G= | ||
NM_002117.5:c.480G= | NP_002108.4:p.Ala160= | |
NM_002117.6:c.480G= MANE Select | NP_002108.4:p.Ala160= |