HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271314G= , CM000668.2:g.31271314G= | GRCh38 |
NC_000006.11:g.31239091G= , CM000668.1:g.31239091G= | GRCh37 |
NC_000006.10:g.31347070G= | NCBI36 |
NG_029422.2:g.5818C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.378C= MANE Select | ENSP00000365402.5:p.Asp126= | |
ENST00000376228.9:c.378C= | ENSP00000365402.5:p.Asp126= | |
ENST00000376237.8:c.361C= | ENSP00000365412.4:p.Pro121= | |
ENST00000383329.7:c.378C= | ENSP00000372819.3:p.Asp126= | |
ENST00000415537.1:c.376C= | ||
ENST00000484378.1:n.647C= | ||
ENST00000487245.5:n.737C= | ||
ENST00000495835.1:n.567C= | ||
NM_002117.5:c.378C= | NP_002108.4:p.Asp126= | |
NM_002117.6:c.378C= MANE Select | NP_002108.4:p.Asp126= |