Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684045C>T , CM000665.2:g.49684045C>T	GRCh38
NC_000003.11:g.49721478C>T , CM000665.1:g.49721478C>T	GRCh37
NC_000003.10:g.49696482C>T	NCBI36
NG_011438.1:g.15044C>T
NG_016454.1:g.9719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2161G>A MANE Select	ENSP00000414287.2:p.Val721Ile
ENST00000448220.5:c.569G>A
ENST00000449682.2:c.2161G>A	ENSP00000414287.2:p.Val721Ile
ENST00000479115.5:n.2216G>A
ENST00000488350.6:n.4083G>A
ENST00000492329.5:n.1937G>A
NM_020998.3:c.2161G>A	NP_066278.3:p.Val721Ile
XM_006713166.1:c.2026G>A	XP_006713229.1:p.Val676Ile
XM_011533730.1:c.2296G>A	XP_011532032.1:p.Val766Ile
XM_011533731.1:c.2203G>A	XP_011532033.1:p.Val735Ile
XM_011533732.1:c.2197G>A	XP_011532034.1:p.Val733Ile
XM_011533733.1:c.*81G>A	XP_011532035.1:n.*81G>A
XR_427270.2:n.3093G>A
XR_427271.1:n.3044G>A
XR_427273.1:n.2949G>A
XR_427274.2:n.2994G>A
XR_940425.1:n.3089G>A
XR_940426.1:n.3129G>A
XR_940427.1:n.2994G>A
NR_146060.1:n.2114G>A
XM_006713166.2:c.2026G>A	XP_006713229.1:p.Val676Ile
XM_011533732.2:c.2197G>A	XP_011532034.1:p.Val733Ile
XM_017006460.2:c.2140G>A	XP_016861949.1:p.Val714Ile
XM_017006461.2:c.2104G>A	XP_016861950.1:p.Val702Ile
XM_017006462.2:c.*81G>A	XP_016861951.1:n.*81G>A
XM_017006463.2:c.*81G>A	XP_016861952.1:n.*81G>A
XM_017006464.2:c.*81G>A	XP_016861953.1:n.*81G>A
XR_001740149.2:n.2261G>A
XR_001740150.2:n.2258G>A
XR_001740151.2:n.2301G>A
XR_001740152.2:n.2216G>A
XR_001740153.2:n.2262G>A
XR_002959536.1:n.2216G>A
XR_427273.2:n.2220G>A
XR_940427.2:n.2265G>A
NM_001393581.1:c.2197G>A	NP_001380510.1:p.Val733Ile
NM_001393582.1:c.2104G>A	NP_001380511.1:p.Val702Ile
NM_001393583.1:c.2071G>A	NP_001380512.1:p.Val691Ile
NM_001393584.1:c.2026G>A	NP_001380513.1:p.Val676Ile
NM_001393585.1:c.1861G>A	NP_001380514.1:p.Val621Ile
NM_020998.4:c.2161G>A MANE Select	NP_066278.3:p.Val721Ile
NR_146060.2:n.2825G>A

Linked Data

Genomic Alleles

Transcript Alleles