HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35285002G>T , CM000681.2:g.35285002G>T | GRCh38 |
NC_000019.9:g.35775905G>T , CM000681.1:g.35775905G>T | GRCh37 |
NC_000019.8:g.40467745G>T | NCBI36 |
NG_011563.1:g.7496G>T | |
NG_011563.2:g.7496G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222304.5:c.215G>T MANE Select | ENSP00000222304.2:p.Cys72Phe | |
ENST00000222304.3:c.215G>T | ENSP00000222304.2:p.Cys72Phe | |
ENST00000593580.1:n.2486G>T | ||
ENST00000598398.5:c.215G>T | ENSP00000471894.1:p.Cys72Phe | |
NM_021175.2:c.215G>T | NP_066998.1:p.Cys72Phe | |
NM_021175.3:c.215G>T | NP_066998.1:p.Cys72Phe | |
NM_021175.4:c.215G>T MANE Select | NP_066998.1:p.Cys72Phe |