HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271313G>A , CM000668.2:g.31271313G>A | GRCh38 |
NC_000006.11:g.31239090G>A , CM000668.1:g.31239090G>A | GRCh37 |
NC_000006.10:g.31347069G>A | NCBI36 |
NG_029422.2:g.5819C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.379C>T MANE Select | ENSP00000365402.5:p.Leu127= | |
ENST00000376228.9:c.379C>T | ENSP00000365402.5:p.Leu127= | |
ENST00000376237.8:c.362C>T | ENSP00000365412.4:p.Pro121Leu | |
ENST00000383329.7:c.379C>T | ENSP00000372819.3:p.Leu127= | |
ENST00000415537.1:c.377C>T | ||
ENST00000484378.1:n.648C>T | ||
ENST00000487245.5:n.738C>T | ||
ENST00000495835.1:n.568C>T | ||
NM_002117.5:c.379C>T | NP_002108.4:p.Leu127= | |
NM_002117.6:c.379C>T MANE Select | NP_002108.4:p.Leu127= |