HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23682810G>A , CM000670.2:g.23682810G>A | GRCh38 |
NC_000008.10:g.23540323G>A , CM000670.1:g.23540323G>A | GRCh37 |
NC_000008.9:g.23596268G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380871.5:c.80C>T MANE Select | ENSP00000370253.4:p.Thr27Met | |
ENST00000380871.4:c.80C>T | ENSP00000370253.4:p.Thr27Met | |
ENST00000523261.1:c.33+47C>T | ENSP00000429729.1:n.33+47C>T | |
NM_001256339.1:c.33+47C>T | NP_001243268.1:n.33+47C>T | |
NM_006167.3:c.80C>T | NP_006158.2:p.Thr27Met | |
NR_046072.1:n.18+94C>T | ||
XR_001745842.1:n.1312+14060G>A | ||
NM_006167.4:c.80C>T MANE Select | NP_006158.2:p.Thr27Met | |
NR_046072.2:n.35+94C>T |