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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.149145520G>T , CM000665.2:g.149145520G>T
GRCh38
NC_000003.11:g.148863307G>T , CM000665.1:g.148863307G>T
GRCh37
NC_000003.10:g.150345997G>T
NCBI36
NG_009847.1:g.20937G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296051.7:c.1137G>T
MANE Select
ENSP00000296051.2:p.Thr379=
ENST00000296051.6:c.1137G>T
ENSP00000296051.2:p.Thr379=
ENST00000460120.5:c.642G>T
ENSP00000418230.1:p.Thr214=
ENST00000462030.5:n.1736G>T
ENST00000486530.1:n.1170G>T
NM_001308258.1:c.642G>T
NP_001295187.1:p.Thr214=
NM_032383.3:c.1137G>T
NP_115759.2:p.Thr379=
NM_032383.4:c.1137G>T
NP_115759.2:p.Thr379=
XM_005247834.3:c.1137G>T
XP_005247891.1:p.Thr379=
XM_006713788.1:c.1137G>T
XP_006713851.1:p.Thr379=
XR_924201.1:n.1252G>T
XM_005247834.4:c.1137G>T
XP_005247891.1:p.Thr379=
XM_017007323.2:c.1137G>T
XP_016862812.1:p.Thr379=
XR_001740326.2:n.1237G>T
XR_001740327.2:n.1237G>T
XR_001740328.2:n.1237G>T
XR_924201.3:n.1237G>T
NM_001308258.2:c.642G>T
NP_001295187.1:p.Thr214=
NM_032383.5:c.1137G>T
MANE Select
NP_115759.2:p.Thr379=