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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.149145517C>G , CM000665.2:g.149145517C>G
GRCh38
NC_000003.11:g.148863304C>G , CM000665.1:g.148863304C>G
GRCh37
NC_000003.10:g.150345994C>G
NCBI36
NG_009847.1:g.20934C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296051.7:c.1134C>G
MANE Select
ENSP00000296051.2:p.Leu378=
ENST00000296051.6:c.1134C>G
ENSP00000296051.2:p.Leu378=
ENST00000460120.5:c.639C>G
ENSP00000418230.1:p.Leu213=
ENST00000462030.5:n.1733C>G
ENST00000486530.1:n.1167C>G
NM_001308258.1:c.639C>G
NP_001295187.1:p.Leu213=
NM_032383.3:c.1134C>G
NP_115759.2:p.Leu378=
NM_032383.4:c.1134C>G
NP_115759.2:p.Leu378=
XM_005247834.3:c.1134C>G
XP_005247891.1:p.Leu378=
XM_006713788.1:c.1134C>G
XP_006713851.1:p.Leu378=
XR_924201.1:n.1249C>G
XM_005247834.4:c.1134C>G
XP_005247891.1:p.Leu378=
XM_017007323.2:c.1134C>G
XP_016862812.1:p.Leu378=
XR_001740326.2:n.1234C>G
XR_001740327.2:n.1234C>G
XR_001740328.2:n.1234C>G
XR_924201.3:n.1234C>G
NM_001308258.2:c.639C>G
NP_001295187.1:p.Leu213=
NM_032383.5:c.1134C>G
MANE Select
NP_115759.2:p.Leu378=