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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30452212T= , CM000669.2:g.30452212T=
GRCh38
NC_000007.13:g.30491828T= , CM000669.1:g.30491828T=
GRCh37
NC_000007.12:g.30458353T=
NCBI36
NG_013025.1:g.31566A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000222823.9:c.1205A=
MANE Select
ENSP00000222823.4:p.Gln402=
ENST00000222823.8:c.1205A=
ENSP00000222823.4:p.Gln402=
ENST00000434755.5:c.1205A=
ENSP00000416946.1:p.Gln402=
NM_006092.2:c.1205A=
NP_006083.1:p.Gln402=
XM_005249568.1:c.1205A=
XP_005249625.1:p.Gln402=
XM_005249572.1:c.1205A=
XP_005249629.1:p.Gln402=
XM_005249576.1:c.461A=
XP_005249633.1:p.Gln154=
XM_006715633.2:c.1205A=
XP_006715696.1:p.Gln402=
XM_011515079.1:c.1205A=
XP_011513381.1:p.Gln402=
XM_011515080.1:c.1205A=
XP_011513382.1:p.Gln402=
XM_011515081.1:c.1205A=
XP_011513383.1:p.Gln402=
XM_011515082.1:c.1205A=
XP_011513384.1:p.Gln402=
XM_011515083.1:c.1205A=
XP_011513385.1:p.Gln402=
XM_011515084.1:c.1205A=
XP_011513386.1:p.Gln402=
XM_011515085.1:c.1205A=
XP_011513387.1:p.Gln402=
XM_011515086.1:c.1205A=
XP_011513388.1:p.Gln402=
XM_011515087.1:c.1205A=
XP_011513389.1:p.Gln402=
XM_011515088.1:c.1205A=
XP_011513390.1:p.Gln402=
XR_926907.1:n.1783A=
XR_926908.1:n.1783A=
XR_926909.1:n.1783A=
XR_926910.1:n.1783A=
NM_001354849.1:c.1205A=
NP_001341778.1:p.Gln402=
NM_006092.3:c.1205A=
NP_006083.1:p.Gln402=
NR_149002.1:n.1817A=
XM_011515080.2:c.1205A=
XP_011513382.1:p.Gln402=
XM_011515081.2:c.1205A=
XP_011513383.1:p.Gln402=
XM_011515088.2:c.1205A=
XP_011513390.1:p.Gln402=
XM_017011674.1:c.1205A=
XP_016867163.1:p.Gln402=
XR_001744529.1:n.1783A=
XR_001744530.1:n.1783A=
XR_002956406.1:n.1731A=
XR_926908.2:n.1783A=
XR_926909.2:n.1783A=
NM_006092.4:c.1205A=
MANE Select
NP_006083.1:p.Gln402=
NM_001354849.2:c.1205A=
NP_001341778.1:p.Gln402=
NR_149002.2:n.1735A=