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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127426203C>T , CM000664.2:g.127426203C>T
GRCh38
NC_000002.11:g.128183779C>T , CM000664.1:g.128183779C>T
GRCh37
NC_000002.10:g.127900249C>T
NCBI36
NG_016323.1:g.12784C>T , LRG_599:g.12784C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.654C>T
MANE Select
ENSP00000234071.4:p.Thr218=
ENST00000234071.7:c.654C>T
ENSP00000234071.3:p.Thr218=
ENST00000402125.2:c.121-2154C>T
ENST00000409048.1:c.756C>T
ENSP00000386679.1:p.Thr252=
ENST00000464089.1:n.240C>T
NM_000312.3:c.654C>T , LRG_599t1:c.654C>T
NP_000303.1:p.Thr218=
XM_005263715.3:c.837C>T
XP_005263772.1:p.Thr279=
XM_005263716.3:c.819C>T
XP_005263773.1:p.Thr273=
XM_005263717.3:c.717C>T
XP_005263774.1:p.Thr239=
XM_005263717.4:c.717C>T
XP_005263774.1:p.Thr239=
XM_017004505.1:c.897C>T
XP_016859994.1:p.Thr299=
XM_024453002.1:c.999C>T
XP_024308770.1:p.Thr333=
XM_024453003.1:c.939C>T
XP_024308771.1:p.Thr313=
XM_024453004.1:c.837C>T
XP_024308772.1:p.Thr279=
XM_024453005.1:c.819C>T
XP_024308773.1:p.Thr273=
XM_024453006.1:c.756C>T
XP_024308774.1:p.Thr252=
XR_923313.2:n.4382G>A
NM_000312.4:c.654C>T
MANE Select
NP_000303.1:p.Thr218=
NM_001375602.1:c.837C>T
NP_001362531.1:p.Thr279=
NM_001375603.1:c.819C>T
NP_001362532.1:p.Thr273=
NM_001375604.1:c.717C>T
NP_001362533.1:p.Thr239=
NM_001375605.1:c.756C>T
NP_001362534.1:p.Thr252=
NM_001375606.1:c.822C>T
NP_001362535.1:p.Thr274=
NM_001375607.1:c.840C>T
NP_001362536.1:p.Thr280=
NM_001375608.1:c.597C>T
NP_001362537.1:p.Thr199=
NM_001375609.1:c.630C>T
NP_001362538.1:p.Thr210=
NM_001375610.1:c.648C>T
NP_001362539.1:p.Thr216=
NM_001375611.1:c.654C>T
NP_001362540.1:p.Thr218=
NM_001375613.1:c.654C>T
NP_001362542.1:p.Thr218=