HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40845063G>A , CM000681.2:g.40845063G>A | GRCh38 |
NC_000019.9:g.41350968G>A , CM000681.1:g.41350968G>A | GRCh37 |
NC_000019.8:g.46042808G>A | NCBI36 |
NG_008377.1:g.10385C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.1161+231C>T MANE Select | ENSP00000301141.4:n.1161+231C>T | |
ENST00000301141.9:c.1161+231C>T | ENSP00000301141.4:n.1161+231C>T | |
ENST00000596719.5:n.1243C>T | ||
ENST00000601627.1:c.119+43648G>A | ||
ENST00000610301.1:c.1161+231C>T | ENSP00000477899.1:n.1161+231C>T | |
NM_000762.5:c.1161+231C>T | NP_000753.3:n.1161+231C>T | |
NM_000762.6:c.1161+231C>T MANE Select | NP_000753.3:n.1161+231C>T |