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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233346902T= , CM000664.2:g.233346902T=
GRCh38
NC_000002.11:g.234255548T= , CM000664.1:g.234255548T=
GRCh37
NC_000002.10:g.233920287T=
NCBI36
NG_009116.1:g.44240T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000409110.6:c.1208T=
MANE Select
ENSP00000386444.1:p.Val403=
ENST00000409110.5:c.1208T=
ENSP00000386444.1:p.Val403=
ENST00000412969.6:n.2428T=
ENST00000471884.5:n.3239T=
ENST00000474220.5:n.414T=
ENST00000476500.5:n.6507T=
ENST00000492629.1:n.169T=
NM_000541.4:c.1208T=
NP_000532.2:p.Val403=
XM_011511589.1:c.1208T=
XP_011509891.1:p.Val403=
XM_011511590.1:c.1208T=
XP_011509892.1:p.Val403=
XM_011511591.1:c.*76T=
XP_011509893.1:n.*76T=
XM_011511592.1:c.1052T=
XP_011509894.1:p.Val351=
XM_011511593.1:c.908T=
XP_011509895.1:p.Val303=
XM_011511594.1:c.836T=
XP_011509896.1:p.Val279=
XM_011511596.1:c.806T=
XP_011509898.1:p.Val269=
XM_011511597.1:c.806T=
XP_011509899.1:p.Val269=
XR_922978.1:n.1525T=
XR_922980.1:n.1624T=
XM_011511593.3:c.908T=
XP_011509895.1:p.Val303=
XM_017004641.1:c.*76T=
XP_016860130.1:n.*76T=
XM_024453036.1:c.*76T=
XP_024308804.1:n.*76T=
XR_001738882.1:n.1406T=
XR_922980.2:n.1624T=
NM_000541.5:c.1208T=
MANE Select
NP_000532.2:p.Val403=