Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728818C>T , CM000664.2:g.214728818C>T	GRCh38
NC_000002.11:g.215593542C>T , CM000664.1:g.215593542C>T	GRCh37
NC_000002.10:g.215301787C>T	NCBI36
NG_012047.2:g.85887G>A
NG_012047.3:g.85894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2192G>A MANE Select	ENSP00000260947.4:p.Arg731His
ENST00000421162.2:c.839G>A	ENSP00000392245.2:p.Arg280His
ENST00000613192.2:c.*255G>A	ENSP00000483275.2:n.*255G>A
ENST00000613374.5:c.782G>A	ENSP00000484464.1:p.Arg261His
ENST00000613706.5:c.1784G>A	ENSP00000484976.2:p.Arg595His
ENST00000617164.5:c.2135G>A	ENSP00000480470.1:p.Arg712His
ENST00000619009.5:c.653G>A	ENSP00000482293.1:p.Arg218His
ENST00000650978.1:c.3567G>A
ENST00000260947.8:c.2192G>A	ENSP00000260947.4:p.Arg731His
ENST00000432456.5:c.335G>A
ENST00000455743.5:c.*1812G>A	ENSP00000412186.1:n.*1812G>A
ENST00000471590.5:n.527G>A
ENST00000613192.1:c.362G>A	ENSP00000483275.1:p.Arg121His
ENST00000613374.4:c.782G>A	ENSP00000484464.1:p.Arg261His
ENST00000613706.4:c.839G>A	ENSP00000484976.1:p.Arg280His
ENST00000617164.4:c.2135G>A	ENSP00000480470.1:p.Arg712His
ENST00000619009.4:c.653G>A	ENSP00000482293.1:p.Arg218His
ENST00000620057.4:c.*858G>A	ENSP00000481988.1:n.*858G>A
NM_000465.3:c.2192G>A	NP_000456.2:p.Arg731His
NM_001282543.1:c.2135G>A	NP_001269472.1:p.Arg712His
NM_001282545.1:c.839G>A	NP_001269474.1:p.Arg280His
NM_001282548.1:c.782G>A	NP_001269477.1:p.Arg261His
NM_001282549.1:c.653G>A	NP_001269478.1:p.Arg218His
NR_104212.1:n.2185G>A
NR_104215.1:n.2128G>A
NR_104216.1:n.1384G>A
XM_011511567.1:c.2138G>A	XP_011509869.1:p.Arg713His
XM_017004613.1:c.2291G>A	XP_016860102.1:p.Arg764His
XR_002959322.1:n.2558G>A
NM_000465.4:c.2192G>A MANE Select	NP_000456.2:p.Arg731His
NM_001282543.2:c.2135G>A	NP_001269472.1:p.Arg712His
NM_001282545.2:c.839G>A	NP_001269474.1:p.Arg280His
NM_001282548.2:c.782G>A	NP_001269477.1:p.Arg261His
NM_001282549.2:c.653G>A	NP_001269478.1:p.Arg218His
NR_104212.2:n.2157G>A
NR_104215.2:n.2100G>A
NR_104216.2:n.1356G>A