HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270404G>A , CM000668.2:g.31270404G>A | GRCh38 |
NC_000006.11:g.31238181G>A , CM000668.1:g.31238181G>A | GRCh37 |
NC_000006.10:g.31346160G>A | NCBI36 |
NG_029422.2:g.6728C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.701C>T MANE Select | ENSP00000365402.5:p.Pro234Leu | |
ENST00000376228.9:c.701C>T | ENSP00000365402.5:p.Pro234Leu | |
ENST00000376237.8:c.*288C>T | ENSP00000365412.4:n.*288C>T | |
ENST00000383329.7:c.701C>T | ENSP00000372819.3:p.Pro234Leu | |
ENST00000415537.1:c.664+35C>T | ||
ENST00000470363.5:n.19C>T | ||
ENST00000487245.5:n.1060C>T | ||
ENST00000495835.1:n.890C>T | ||
NM_002117.5:c.701C>T | NP_002108.4:p.Pro234Leu | |
NM_002117.6:c.701C>T MANE Select | NP_002108.4:p.Pro234Leu |