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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.149157433T>G , CM000665.2:g.149157433T>G
GRCh38
NC_000003.11:g.148875220T>G , CM000665.1:g.148875220T>G
GRCh37
NC_000003.10:g.150357910T>G
NCBI36
NG_009847.1:g.32850T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296051.7:c.1593T>G
MANE Select
ENSP00000296051.2:p.Ala531=
ENST00000296051.6:c.1593T>G
ENSP00000296051.2:p.Ala531=
ENST00000460120.5:c.1098T>G
ENSP00000418230.1:p.Ala366=
NM_001308258.1:c.1098T>G
NP_001295187.1:p.Ala366=
NM_032383.3:c.1593T>G
NP_115759.2:p.Ala531=
NM_032383.4:c.1593T>G
NP_115759.2:p.Ala531=
XM_005247834.3:c.1593T>G
XP_005247891.1:p.Ala531=
XM_006713788.1:c.1593T>G
XP_006713851.1:p.Ala531=
XR_924201.1:n.1708T>G
XM_005247834.4:c.1593T>G
XP_005247891.1:p.Ala531=
XM_017007323.2:c.1593T>G
XP_016862812.1:p.Ala531=
XR_001740326.2:n.1693T>G
XR_001740327.2:n.1693T>G
XR_001740328.2:n.1693T>G
XR_924201.3:n.1693T>G
NM_001308258.2:c.1098T>G
NP_001295187.1:p.Ala366=
NM_032383.5:c.1593T>G
MANE Select
NP_115759.2:p.Ala531=