HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23212156C>A , CM000670.2:g.23212156C>A | GRCh38 |
NC_000008.10:g.23069669C>A , CM000670.1:g.23069669C>A | GRCh37 |
NC_000008.9:g.23125614C>A | NCBI36 |
NG_032107.1:g.18012G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.363G>T MANE Select | ENSP00000221132.3:p.Gln121His | |
ENST00000221132.7:c.363G>T | ENSP00000221132.3:p.Gln121His | |
ENST00000524158.5:c.-244G>T | ENSP00000428884.1:n.-244G>T | |
ENST00000613472.1:c.32-9497G>T | ENSP00000480778.1:n.32-9497G>T | |
NM_003844.3:c.363G>T | NP_003835.3:p.Gln121His | |
NM_003844.4:c.363G>T MANE Select | NP_003835.3:p.Gln121His |