HGVS | Genome Assembly |
---|---|
NC_000012.12:g.30630927C>A , CM000674.2:g.30630927C>A | GRCh38 |
NC_000012.11:g.30783861C>A , CM000674.1:g.30783861C>A | GRCh37 |
NC_000012.10:g.30675128C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256079.9:c.3047G>T MANE Select | ENSP00000256079.4:p.Gly1016Val | |
ENST00000256079.8:c.3047G>T | ENSP00000256079.4:p.Gly1016Val | |
ENST00000544829.5:c.2432G>T | ENSP00000444520.1:p.Gly811Val | |
NM_001190995.1:c.2432G>T | NP_001177924.1:p.Gly811Val | |
NM_006390.3:c.3047G>T | NP_006381.2:p.Gly1016Val | |
XM_011520546.1:c.3143G>T | XP_011518848.1:p.Gly1048Val | |
XM_011520547.1:c.3092G>T | XP_011518849.1:p.Gly1031Val | |
XM_017018691.2:c.2996G>T | XP_016874180.1:p.Gly999Val | |
XM_017018692.1:c.2861G>T | XP_016874181.1:p.Gly954Val | |
NM_006390.4:c.3047G>T MANE Select | NP_006381.2:p.Gly1016Val | |
NM_001190995.2:c.2432G>T | NP_001177924.1:p.Gly811Val |