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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.22094051A>G , CM000685.2:g.22094051A>G
GRCh38
NC_000023.10:g.22112169A>G , CM000685.1:g.22112169A>G
GRCh37
NC_000023.9:g.22022090A>G
NCBI36
NG_007563.2:g.66249A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000475778.2:n.1227A>G
ENST00000684143.1:c.798A>G
ENSP00000508264.1:p.Ala266=
ENST00000684745.1:n.475A>G
ENST00000379374.5:c.801A>G
MANE Select
ENSP00000368682.4:p.Ala267=
ENST00000379374.4:c.801A>G
ENSP00000368682.4:p.Ala267=
ENST00000475778.1:n.74A>G
NM_000444.5:c.801A>G
NP_000435.3:p.Ala267=
NM_001282754.1:c.801A>G
NP_001269683.1:p.Ala267=
XM_011545533.1:c.45A>G
XP_011543835.1:p.Ala15=
XM_011545534.1:c.45A>G
XP_011543836.1:p.Ala15=
XM_011545535.1:c.801A>G
XP_011543837.1:p.Ala267=
XM_017029579.1:c.45A>G
XP_016885068.1:p.Ala15=
XM_024452390.1:c.510A>G
XP_024308158.1:p.Ala170=
XR_001755695.1:n.1480A>G
NM_000444.6:c.801A>G
MANE Select
NP_000435.3:p.Ala267=
NM_001282754.2:c.801A>G
NP_001269683.1:p.Ala267=