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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41771860C= , CM000679.2:g.41771860C=
GRCh38
NC_000017.10:g.39928112C= , CM000679.1:g.39928112C=
GRCh37
NC_000017.9:g.37181638C=
NCBI36
NG_009090.2:g.19853G= , LRG_401:g.19853G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393931.8:c.-6G=
MANE Select
ENSP00000377508.3:n.-6G=
ENST00000310706.9:c.-6G=
ENSP00000311113.5:n.-6G=
ENST00000393930.5:c.-6G=
ENSP00000377507.1:n.-6G=
ENST00000393931.7:c.-6G=
ENSP00000377508.3:n.-6G=
ENST00000420370.5:c.-6G=
ENSP00000411449.1:n.-6G=
ENST00000424457.5:c.-6G=
ENSP00000401034.1:n.-6G=
ENST00000437187.5:c.-6G=
ENSP00000394146.1:n.-6G=
ENST00000437369.5:c.-6G=
ENSP00000409948.1:n.-6G=
ENST00000449889.5:c.-6G=
ENSP00000389886.1:n.-6G=
ENST00000465293.1:c.-6G=
ENSP00000467065.1:n.-6G=
ENST00000589036.1:n.124-1G=
ENST00000591690.5:c.-6G=
ENSP00000468347.1:n.-6G=
NM_002230.2:c.-6G= , LRG_401t2:c.-6G=
NP_002221.1:n.-6G=
NM_021991.2:c.-6G= , LRG_401t1:c.-6G=
NP_068831.1:n.-6G=
XM_006721873.1:c.-6G=
XP_006721936.1:n.-6G=
XM_006721874.1:c.-6G=
XP_006721937.1:n.-6G=
XM_006721875.1:c.-6G=
XP_006721938.1:n.-6G=
XM_006721878.1:c.-6G=
XP_006721941.1:n.-6G=
XM_011524753.1:c.-6G=
XP_011523055.1:n.-6G=
XM_011524754.1:c.-6G=
XP_011523056.1:n.-6G=
XM_011524755.1:c.-5-1G=
XP_011523057.1:n.-5-1G=
XM_011524756.1:c.-5-1G=
XP_011523058.1:n.-5-1G=
XM_011524757.1:c.-5-1G=
XP_011523059.1:n.-5-1G=
XM_011524758.1:c.-5-1G=
XP_011523060.1:n.-5-1G=
NM_001352773.1:c.-6G=
NP_001339702.1:n.-6G=
NM_001352774.1:c.-5-1G=
NP_001339703.1:n.-5-1G=
NM_001352775.1:c.-5-1G=
NP_001339704.1:n.-5-1G=
NM_001352776.1:c.-6G=
NP_001339705.1:n.-6G=
NM_001352777.1:c.-6G=
NP_001339706.1:n.-6G=
NM_002230.3:c.-6G=
NP_002221.1:n.-6G=
NM_021991.3:c.-6G=
NP_068831.1:n.-6G=
XM_006721874.3:c.-6G=
XP_006721937.1:n.-6G=
XM_011524753.2:c.-6G=
XP_011523055.1:n.-6G=
XM_017024588.2:c.46G=
XP_016880077.1:p.Ala16=
XM_017024590.1:c.-5-1G=
XP_016880079.1:n.-5-1G=
NM_002230.4:c.-6G=
MANE Select
NP_002221.1:n.-6G=
NM_001352773.2:c.-6G=
NP_001339702.1:n.-6G=
NM_001352774.2:c.-5-1G=
NP_001339703.1:n.-5-1G=
NM_001352775.2:c.-5-1G=
NP_001339704.1:n.-5-1G=
NM_001352776.2:c.-6G=
NP_001339705.1:n.-6G=
NM_001352777.2:c.-6G=
NP_001339706.1:n.-6G=
NM_021991.4:c.-6G=
NP_068831.1:n.-6G=