HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247972C= , CM000681.2:g.39247972C= | GRCh38 |
NC_000019.9:g.39738612C= , CM000681.1:g.39738612C= | GRCh37 |
NC_000019.8:g.44430452C= | NCBI36 |
NG_042193.1:g.2000G= | |
NG_055295.1:g.5885G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000606380.2:c.175G= | ENSP00000476098.1:p.Ala59= | |
ENST00000610963.1:c.174G= | ENSP00000481371.1:p.Gly58= | |
ENST00000616270.4:c.175G= | ENSP00000480679.1:p.Ala59= | |
ENST00000634680.1:c.151+457G= | ENSP00000489240.1:n.151+457G= | |
ENST00000634967.1:c.175G= | ENSP00000489559.1:p.Ala59= | |
NR_074079.1:n.452G= |