HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300838C= , CM000667.2:g.128300838C= | GRCh38 |
NC_000005.9:g.127636530C= , CM000667.1:g.127636530C= | GRCh37 |
NC_000005.8:g.127664429C= | NCBI36 |
NG_008750.1:g.242206G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2929G= | ||
ENST00000703785.1:n.2848G= | ||
ENST00000262464.9:c.6145G= MANE Select | ENSP00000262464.4:p.Val2049= | |
ENST00000262464.8:c.6145G= | ENSP00000262464.4:p.Val2049= | |
ENST00000508053.5:c.6145G= | ENSP00000424571.1:p.Val2049= | |
ENST00000619499.4:c.6142G= | ENSP00000482132.1:p.Val2048= | |
NM_001999.3:c.6145G= | NP_001990.2:p.Val2049= | |
XM_017009228.2:c.5992G= | XP_016864717.1:p.Val1998= | |
NM_001999.4:c.6145G= MANE Select | NP_001990.2:p.Val2049= |