Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539891G>A , CM000669.2:g.2539891G>A	GRCh38
NC_000007.13:g.2579525G>A , CM000669.1:g.2579525G>A	GRCh37
NC_000007.12:g.2546051G>A	NCBI36
NG_032167.1:g.20868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1396-3C>T MANE Select	ENSP00000339637.4:n.1396-3C>T
ENST00000340611.8:c.1396-3C>T	ENSP00000339637.4:n.1396-3C>T
ENST00000467558.5:n.2765C>T
ENST00000469750.5:n.3965C>T
ENST00000473879.1:n.112-3C>T
ENST00000493232.5:n.4129C>T
NM_152743.3:c.1396-3C>T	NP_689956.2:n.1396-3C>T
XM_005249643.3:c.1396-3C>T	XP_005249700.1:n.1396-3C>T
XM_011515177.1:c.1477C>T	XP_011513479.1:p.Gln493Ter
XM_011515178.1:c.1477C>T	XP_011513480.1:p.Gln493Ter
XM_011515179.1:c.1474C>T	XP_011513481.1:p.Gln492Ter
XM_011515180.1:c.1447C>T	XP_011513482.1:p.Gln483Ter
XM_011515181.1:c.1477C>T	XP_011513483.1:p.Gln493Ter
XM_011515182.1:c.1477C>T	XP_011513484.1:p.Gln493Ter
XM_011515183.1:c.952C>T	XP_011513485.1:p.Gln318Ter
XM_011515184.1:c.952C>T	XP_011513486.1:p.Gln318Ter
XM_011515185.1:c.1396-3C>T	XP_011513487.1:n.1396-3C>T
XM_011515186.1:c.1477C>T	XP_011513488.1:p.Gln493Ter
XM_011515187.1:c.52-3C>T	XP_011513489.1:n.52-3C>T
NM_001350626.1:c.1396-3C>T	NP_001337555.1:n.1396-3C>T
NM_001350627.1:c.871-3C>T	NP_001337556.1:n.871-3C>T
NR_146879.1:n.1813-3C>T
XM_011515177.2:c.1477C>T	XP_011513479.1:p.Gln493Ter
XM_011515179.2:c.1474C>T	XP_011513481.1:p.Gln492Ter
XM_011515181.2:c.1477C>T	XP_011513483.1:p.Gln493Ter
XM_011515182.2:c.1477C>T	XP_011513484.1:p.Gln493Ter
XM_011515184.3:c.952C>T	XP_011513486.1:p.Gln318Ter
XM_011515186.2:c.1477C>T	XP_011513488.1:p.Gln493Ter
XM_017011833.1:c.1393-3C>T	XP_016867322.1:n.1393-3C>T
XM_017011834.1:c.1393-3C>T	XP_016867323.1:n.1393-3C>T
XM_017011836.2:c.1396-3C>T	XP_016867325.1:n.1396-3C>T
XM_024446682.1:c.52-3C>T	XP_024302450.1:n.52-3C>T
NM_152743.4:c.1396-3C>T MANE Select	NP_689956.2:n.1396-3C>T
NM_001350626.2:c.1396-3C>T	NP_001337555.1:n.1396-3C>T
NM_001350627.2:c.871-3C>T	NP_001337556.1:n.871-3C>T
NR_146879.2:n.1579-3C>T