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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.2539865G>A , CM000669.2:g.2539865G>A
GRCh38
NC_000007.13:g.2579499G>A , CM000669.1:g.2579499G>A
GRCh37
NC_000007.12:g.2546025G>A
NCBI36
NG_032167.1:g.20894C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000340611.9:c.1419C>T
MANE Select
ENSP00000339637.4:p.Ala473=
ENST00000340611.8:c.1419C>T
ENSP00000339637.4:p.Ala473=
ENST00000467558.5:n.2791C>T
ENST00000469750.5:n.3991C>T
ENST00000473879.1:n.135C>T
ENST00000493232.5:n.4155C>T
NM_152743.3:c.1419C>T
NP_689956.2:p.Ala473=
XM_005249643.3:c.1419C>T
XP_005249700.1:p.Ala473=
XM_011515177.1:c.1503C>T
XP_011513479.1:p.Ala501=
XM_011515178.1:c.1503C>T
XP_011513480.1:p.Ala501=
XM_011515179.1:c.1500C>T
XP_011513481.1:p.Ala500=
XM_011515180.1:c.1473C>T
XP_011513482.1:p.Ala491=
XM_011515181.1:c.1503C>T
XP_011513483.1:p.Ala501=
XM_011515182.1:c.1503C>T
XP_011513484.1:p.Ala501=
XM_011515183.1:c.978C>T
XP_011513485.1:p.Ala326=
XM_011515184.1:c.978C>T
XP_011513486.1:p.Ala326=
XM_011515185.1:c.1419C>T
XP_011513487.1:p.Ala473=
XM_011515186.1:c.1503C>T
XP_011513488.1:p.Ala501=
XM_011515187.1:c.75C>T
XP_011513489.1:p.Ala25=
NM_001350626.1:c.1419C>T
NP_001337555.1:p.Ala473=
NM_001350627.1:c.894C>T
NP_001337556.1:p.Ala298=
NR_146879.1:n.1836C>T
XM_011515177.2:c.1503C>T
XP_011513479.1:p.Ala501=
XM_011515179.2:c.1500C>T
XP_011513481.1:p.Ala500=
XM_011515181.2:c.1503C>T
XP_011513483.1:p.Ala501=
XM_011515182.2:c.1503C>T
XP_011513484.1:p.Ala501=
XM_011515184.3:c.978C>T
XP_011513486.1:p.Ala326=
XM_011515186.2:c.1503C>T
XP_011513488.1:p.Ala501=
XM_017011833.1:c.1416C>T
XP_016867322.1:p.Ala472=
XM_017011834.1:c.1416C>T
XP_016867323.1:p.Ala472=
XM_017011836.2:c.1419C>T
XP_016867325.1:p.Ala473=
XM_024446682.1:c.75C>T
XP_024302450.1:p.Ala25=
NM_152743.4:c.1419C>T
MANE Select
NP_689956.2:p.Ala473=
NM_001350626.2:c.1419C>T
NP_001337555.1:p.Ala473=
NM_001350627.2:c.894C>T
NP_001337556.1:p.Ala298=
NR_146879.2:n.1602C>T