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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.24824471G= , CM000664.2:g.24824471G=
GRCh38
NC_000002.11:g.25047340G= , CM000664.1:g.25047340G=
GRCh37
NC_000002.10:g.24900844G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000405392.6:c.2646C=
ENSP00000384484.2:p.Val882=
ENST00000679454.1:c.2643C=
MANE Select
ENSP00000505261.1:p.Val881=
ENST00000260600.9:c.2643C=
ENSP00000260600.5:p.Val881=
ENST00000405392.5:c.2646C=
ENSP00000384484.2:p.Val882=
ENST00000606682.5:c.1584C=
ENSP00000475652.1:p.Val528=
NM_004036.3:c.2643C=
NP_004027.2:p.Val881=
XM_005264104.1:c.2646C=
XP_005264161.1:p.Val882=
XM_005264105.1:c.2643C=
XP_005264162.1:p.Val881=
XM_006711925.1:c.2712C=
XP_006711988.1:p.Val904=
XM_011532489.1:c.2769C=
XP_011530791.1:p.Val923=
XM_011532490.1:c.2766C=
XP_011530792.1:p.Val922=
XM_011532491.1:c.2703C=
XP_011530793.1:p.Val901=
XM_011532492.1:c.2769C=
XP_011530794.1:p.Val923=
XM_011532493.1:c.2631C=
XP_011530795.1:p.Val877=
XM_011532494.1:c.2571C=
XP_011530796.1:p.Val857=
XM_011532495.1:c.2103C=
XP_011530797.1:p.Val701=
XM_011532496.1:c.2046C=
XP_011530798.1:p.Val682=
NM_001320613.1:c.2646C=
NP_001307542.1:p.Val882=
NM_004036.4:c.2643C=
NP_004027.2:p.Val881=
XM_011532492.2:c.2769C=
XP_011530794.1:p.Val923=
XM_017003186.1:c.2709C=
XP_016858675.1:p.Val903=
XM_017003187.1:c.2700C=
XP_016858676.1:p.Val900=
XM_017003188.1:c.2766C=
XP_016858677.1:p.Val922=
XM_017003189.1:c.2628C=
XP_016858678.1:p.Val876=
XM_017003190.1:c.2505C=
XP_016858679.1:p.Val835=
XM_017003191.1:c.2133C=
XP_016858680.1:p.Val711=
XM_017003192.1:c.1923C=
XP_016858681.1:p.Val641=
XM_017003193.1:c.1920C=
XP_016858682.1:p.Val640=
NM_001320613.2:c.2646C=
NP_001307542.1:p.Val882=
NM_001377128.1:c.2709C=
NP_001364057.1:p.Val903=
NM_001377129.1:c.2505C=
NP_001364058.1:p.Val835=
NM_001377130.1:c.2238C=
NP_001364059.1:p.Val746=
NM_001377131.1:c.1920C=
NP_001364060.1:p.Val640=
NM_001377132.1:c.2643C=
NP_001364061.1:p.Val881=
NM_004036.5:c.2643C=
MANE Select
NP_004027.2:p.Val881=