HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23212140G>T , CM000670.2:g.23212140G>T | GRCh38 |
NC_000008.10:g.23069653G>T , CM000670.1:g.23069653G>T | GRCh37 |
NC_000008.9:g.23125598G>T | NCBI36 |
NG_032107.1:g.18028C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.379C>A MANE Select | ENSP00000221132.3:p.Pro127Thr | |
ENST00000221132.7:c.379C>A | ENSP00000221132.3:p.Pro127Thr | |
ENST00000524158.5:c.-228C>A | ENSP00000428884.1:n.-228C>A | |
ENST00000613472.1:c.32-9481C>A | ENSP00000480778.1:n.32-9481C>A | |
NM_003844.3:c.379C>A | NP_003835.3:p.Pro127Thr | |
NM_003844.4:c.379C>A MANE Select | NP_003835.3:p.Pro127Thr |