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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.2539862C>G , CM000669.2:g.2539862C>G
GRCh38
NC_000007.13:g.2579496C>G , CM000669.1:g.2579496C>G
GRCh37
NC_000007.12:g.2546022C>G
NCBI36
NG_032167.1:g.20897G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000340611.9:c.1422G>C
MANE Select
ENSP00000339637.4:p.Thr474=
ENST00000340611.8:c.1422G>C
ENSP00000339637.4:p.Thr474=
ENST00000467558.5:n.2794G>C
ENST00000469750.5:n.3994G>C
ENST00000473879.1:n.138G>C
ENST00000493232.5:n.4158G>C
NM_152743.3:c.1422G>C
NP_689956.2:p.Thr474=
XM_005249643.3:c.1422G>C
XP_005249700.1:p.Thr474=
XM_011515177.1:c.1506G>C
XP_011513479.1:p.Thr502=
XM_011515178.1:c.1506G>C
XP_011513480.1:p.Thr502=
XM_011515179.1:c.1503G>C
XP_011513481.1:p.Thr501=
XM_011515180.1:c.1476G>C
XP_011513482.1:p.Thr492=
XM_011515181.1:c.1506G>C
XP_011513483.1:p.Thr502=
XM_011515182.1:c.1506G>C
XP_011513484.1:p.Thr502=
XM_011515183.1:c.981G>C
XP_011513485.1:p.Thr327=
XM_011515184.1:c.981G>C
XP_011513486.1:p.Thr327=
XM_011515185.1:c.1422G>C
XP_011513487.1:p.Thr474=
XM_011515186.1:c.1506G>C
XP_011513488.1:p.Thr502=
XM_011515187.1:c.78G>C
XP_011513489.1:p.Thr26=
NM_001350626.1:c.1422G>C
NP_001337555.1:p.Thr474=
NM_001350627.1:c.897G>C
NP_001337556.1:p.Thr299=
NR_146879.1:n.1839G>C
XM_011515177.2:c.1506G>C
XP_011513479.1:p.Thr502=
XM_011515179.2:c.1503G>C
XP_011513481.1:p.Thr501=
XM_011515181.2:c.1506G>C
XP_011513483.1:p.Thr502=
XM_011515182.2:c.1506G>C
XP_011513484.1:p.Thr502=
XM_011515184.3:c.981G>C
XP_011513486.1:p.Thr327=
XM_011515186.2:c.1506G>C
XP_011513488.1:p.Thr502=
XM_017011833.1:c.1419G>C
XP_016867322.1:p.Thr473=
XM_017011834.1:c.1419G>C
XP_016867323.1:p.Thr473=
XM_017011836.2:c.1422G>C
XP_016867325.1:p.Thr474=
XM_024446682.1:c.78G>C
XP_024302450.1:p.Thr26=
NM_152743.4:c.1422G>C
MANE Select
NP_689956.2:p.Thr474=
NM_001350626.2:c.1422G>C
NP_001337555.1:p.Thr474=
NM_001350627.2:c.897G>C
NP_001337556.1:p.Thr299=
NR_146879.2:n.1605G>C