HGVS | Genome Assembly |
---|---|
NC_000020.11:g.25079443G>T , CM000682.2:g.25079443G>T | GRCh38 |
NC_000020.10:g.25060079G>T , CM000682.1:g.25060079G>T | GRCh37 |
NC_000020.9:g.25008079G>T | NCBI36 |
NG_008101.1:g.7689C>A | |
NG_008101.2:g.7689C>A | |
NG_008101.3:g.7739C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376709.9:c.496C>A MANE Select | ENSP00000365899.3:p.Arg166= | |
ENST00000376707.4:c.496C>A | ENSP00000365897.3:p.Arg166= | |
ENST00000376709.8:c.496C>A | ENSP00000365899.3:p.Arg166= | |
ENST00000409285.6:c.496C>A | ENSP00000386612.2:p.Arg166= | |
ENST00000409958.6:c.496C>A | ENSP00000387069.2:p.Arg166= | |
ENST00000429762.7:c.496C>A | ENSP00000401690.3:p.Arg166= | |
ENST00000444511.6:c.496C>A | ENSP00000387720.2:p.Arg166= | |
NM_001256271.1:c.496C>A | NP_001243200.1:p.Arg166= | |
NM_001256272.1:c.496C>A | NP_001243201.1:p.Arg166= | |
NM_014588.5:c.496C>A | NP_055403.2:p.Arg166= | |
NM_199425.2:c.496C>A | NP_955457.1:p.Arg166= | |
NR_045948.1:n.779C>A | ||
NR_045951.1:n.779C>A | ||
XM_017027837.1:c.496C>A | XP_016883326.1:p.Arg166= | |
XM_017027838.1:c.496C>A | XP_016883327.1:p.Arg166= | |
NM_014588.6:c.496C>A MANE Select | NP_055403.2:p.Arg166= | |
NR_165181.1:n.254C>A | ||
NM_001256271.2:c.496C>A | NP_001243200.1:p.Arg166= | |
NM_001256272.2:c.496C>A | NP_001243201.1:p.Arg166= | |
NM_199425.3:c.496C>A | NP_955457.1:p.Arg166= | |
NR_045948.2:n.541C>A | ||
NR_045951.2:n.541C>A | ||
NR_165181.2:n.136C>A |