Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684072A>G , CM000665.2:g.49684072A>G	GRCh38
NC_000003.11:g.49721505A>G , CM000665.1:g.49721505A>G	GRCh37
NC_000003.10:g.49696509A>G	NCBI36
NG_011438.1:g.15071A>G
NG_016454.1:g.9692T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2134T>C MANE Select	ENSP00000414287.2:p.Ser712Pro
ENST00000448220.5:c.542T>C
ENST00000449682.2:c.2134T>C	ENSP00000414287.2:p.Ser712Pro
ENST00000479115.5:n.2189T>C
ENST00000488350.6:n.4056T>C
ENST00000492329.5:n.1910T>C
ENST00000493836.5:n.900T>C
NM_020998.3:c.2134T>C	NP_066278.3:p.Ser712Pro
XM_006713166.1:c.1999T>C	XP_006713229.1:p.Ser667Pro
XM_011533730.1:c.2269T>C	XP_011532032.1:p.Ser757Pro
XM_011533731.1:c.2176T>C	XP_011532033.1:p.Ser726Pro
XM_011533732.1:c.2170T>C	XP_011532034.1:p.Ser724Pro
XM_011533733.1:c.*54T>C	XP_011532035.1:n.*54T>C
XR_427270.2:n.3066T>C
XR_427271.1:n.3017T>C
XR_427273.1:n.2922T>C
XR_427274.2:n.2967T>C
XR_940425.1:n.3062T>C
XR_940426.1:n.3102T>C
XR_940427.1:n.2967T>C
NR_146060.1:n.2087T>C
XM_006713166.2:c.1999T>C	XP_006713229.1:p.Ser667Pro
XM_011533732.2:c.2170T>C	XP_011532034.1:p.Ser724Pro
XM_017006460.2:c.2113T>C	XP_016861949.1:p.Ser705Pro
XM_017006461.2:c.2077T>C	XP_016861950.1:p.Ser693Pro
XM_017006462.2:c.*54T>C	XP_016861951.1:n.*54T>C
XM_017006463.2:c.*54T>C	XP_016861952.1:n.*54T>C
XM_017006464.2:c.*54T>C	XP_016861953.1:n.*54T>C
XR_001740149.2:n.2234T>C
XR_001740150.2:n.2231T>C
XR_001740151.2:n.2274T>C
XR_001740152.2:n.2189T>C
XR_001740153.2:n.2235T>C
XR_002959536.1:n.2189T>C
XR_427273.2:n.2193T>C
XR_940427.2:n.2238T>C
NM_001393581.1:c.2170T>C	NP_001380510.1:p.Ser724Pro
NM_001393582.1:c.2077T>C	NP_001380511.1:p.Ser693Pro
NM_001393583.1:c.2044T>C	NP_001380512.1:p.Ser682Pro
NM_001393584.1:c.1999T>C	NP_001380513.1:p.Ser667Pro
NM_001393585.1:c.1834T>C	NP_001380514.1:p.Ser612Pro
NM_020998.4:c.2134T>C MANE Select	NP_066278.3:p.Ser712Pro
NR_146060.2:n.2798T>C

Linked Data

Genomic Alleles

Transcript Alleles