Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684082G>T , CM000665.2:g.49684082G>T	GRCh38
NC_000003.11:g.49721515G>T , CM000665.1:g.49721515G>T	GRCh37
NC_000003.10:g.49696519G>T	NCBI36
NG_011438.1:g.15081G>T
NG_016454.1:g.9682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2124C>A MANE Select	ENSP00000414287.2:p.Phe708Leu
ENST00000448220.5:c.532C>A
ENST00000449682.2:c.2124C>A	ENSP00000414287.2:p.Phe708Leu
ENST00000479115.5:n.2179C>A
ENST00000488350.6:n.4046C>A
ENST00000492329.5:n.1900C>A
ENST00000493836.5:n.890C>A
NM_020998.3:c.2124C>A	NP_066278.3:p.Phe708Leu
XM_006713166.1:c.1989C>A	XP_006713229.1:p.Phe663Leu
XM_011533730.1:c.2259C>A	XP_011532032.1:p.Phe753Leu
XM_011533731.1:c.2166C>A	XP_011532033.1:p.Phe722Leu
XM_011533732.1:c.2160C>A	XP_011532034.1:p.Phe720Leu
XM_011533733.1:c.*44C>A	XP_011532035.1:n.*44C>A
XR_427270.2:n.3056C>A
XR_427271.1:n.3007C>A
XR_427273.1:n.2912C>A
XR_427274.2:n.2957C>A
XR_940425.1:n.3052C>A
XR_940426.1:n.3092C>A
XR_940427.1:n.2957C>A
NR_146060.1:n.2077C>A
XM_006713166.2:c.1989C>A	XP_006713229.1:p.Phe663Leu
XM_011533732.2:c.2160C>A	XP_011532034.1:p.Phe720Leu
XM_017006460.2:c.2103C>A	XP_016861949.1:p.Phe701Leu
XM_017006461.2:c.2067C>A	XP_016861950.1:p.Phe689Leu
XM_017006462.2:c.*44C>A	XP_016861951.1:n.*44C>A
XM_017006463.2:c.*44C>A	XP_016861952.1:n.*44C>A
XM_017006464.2:c.*44C>A	XP_016861953.1:n.*44C>A
XR_001740149.2:n.2224C>A
XR_001740150.2:n.2221C>A
XR_001740151.2:n.2264C>A
XR_001740152.2:n.2179C>A
XR_001740153.2:n.2225C>A
XR_002959536.1:n.2179C>A
XR_427273.2:n.2183C>A
XR_940427.2:n.2228C>A
NM_001393581.1:c.2160C>A	NP_001380510.1:p.Phe720Leu
NM_001393582.1:c.2067C>A	NP_001380511.1:p.Phe689Leu
NM_001393583.1:c.2034C>A	NP_001380512.1:p.Phe678Leu
NM_001393584.1:c.1989C>A	NP_001380513.1:p.Phe663Leu
NM_001393585.1:c.1824C>A	NP_001380514.1:p.Phe608Leu
NM_020998.4:c.2124C>A MANE Select	NP_066278.3:p.Phe708Leu
NR_146060.2:n.2788C>A

Linked Data

Genomic Alleles

Transcript Alleles