HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23212139G>A , CM000670.2:g.23212139G>A | GRCh38 |
NC_000008.10:g.23069652G>A , CM000670.1:g.23069652G>A | GRCh37 |
NC_000008.9:g.23125597G>A | NCBI36 |
NG_032107.1:g.18029C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.380C>T MANE Select | ENSP00000221132.3:p.Pro127Leu | |
ENST00000221132.7:c.380C>T | ENSP00000221132.3:p.Pro127Leu | |
ENST00000524158.5:c.-227C>T | ENSP00000428884.1:n.-227C>T | |
ENST00000613472.1:c.32-9480C>T | ENSP00000480778.1:n.32-9480C>T | |
NM_003844.3:c.380C>T | NP_003835.3:p.Pro127Leu | |
NM_003844.4:c.380C>T MANE Select | NP_003835.3:p.Pro127Leu |