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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.115768353T>G , CM000664.2:g.115768353T>G
GRCh38
NC_000002.11:g.116525929T>G , CM000664.1:g.116525929T>G
GRCh37
NC_000002.10:g.116242399T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000410059.6:c.1170T>G
MANE Select
ENSP00000386565.1:p.Val390=
ENST00000310323.12:c.1149T>G
ENSP00000309066.8:p.Val383=
ENST00000393147.6:c.1182T>G
ENSP00000376855.2:p.Val394=
ENST00000409163.5:c.1020T>G
ENSP00000387038.1:p.Val340=
ENST00000410059.5:c.1170T>G
ENSP00000386565.1:p.Val390=
NM_001004360.3:c.1149T>G
NP_001004360.2:p.Val383=
NM_001178034.1:c.1182T>G
NP_001171505.1:p.Val394=
NM_001178036.1:c.1020T>G
NP_001171507.1:p.Val340=
NM_001178037.1:c.1158T>G
NP_001171508.1:p.Val386=
NM_020868.3:c.1170T>G
NP_065919.2:p.Val390=
XM_011511526.1:c.1149T>G
XP_011509828.1:p.Val383=
XM_011511527.1:c.1020T>G
XP_011509829.1:p.Val340=
XM_011511528.1:c.918T>G
XP_011509830.1:p.Val306=
NM_001321905.1:c.1221T>G
NP_001308834.1:p.Val407=
NM_001321906.1:c.1149T>G
NP_001308835.1:p.Val383=
NM_001321907.1:c.1131T>G
NP_001308836.1:p.Val377=
NM_001321908.1:c.1080T>G
NP_001308837.1:p.Val360=
NM_001321909.1:c.1053T>G
NP_001308838.1:p.Val351=
NM_001321910.1:c.1020T>G
NP_001308839.1:p.Val340=
NM_001321911.1:c.1020T>G
NP_001308840.1:p.Val340=
NM_001321912.1:c.1020T>G
NP_001308841.1:p.Val340=
NM_001321913.1:c.408T>G
NP_001308842.1:p.Val136=
NM_001321914.1:c.408T>G
NP_001308843.1:p.Val136=
NM_020868.4:c.1170T>G
NP_065919.2:p.Val390=
XM_017004566.1:c.1047T>G
XP_016860055.1:p.Val349=
XM_024453023.1:c.1110T>G
XP_024308791.1:p.Val370=
NM_001004360.4:c.1149T>G
NP_001004360.3:p.Val383=
NM_001178036.2:c.1020T>G
NP_001171507.2:p.Val340=
NM_001178037.2:c.1158T>G
NP_001171508.2:p.Val386=
NM_001321905.2:c.1221T>G
NP_001308834.2:p.Val407=
NM_001321907.2:c.1131T>G
NP_001308836.2:p.Val377=
NM_001321908.2:c.1080T>G
NP_001308837.2:p.Val360=
NM_001321909.2:c.1053T>G
NP_001308838.2:p.Val351=
NM_001321910.2:c.1020T>G
NP_001308839.2:p.Val340=
NM_001321911.2:c.1020T>G
NP_001308840.2:p.Val340=
NM_001321912.2:c.1020T>G
NP_001308841.2:p.Val340=
NM_001321913.2:c.408T>G
NP_001308842.2:p.Val136=
NM_020868.6:c.1170T>G
MANE Select
NP_065919.3:p.Val390=
NM_001004360.5:c.1149T>G
NP_001004360.3:p.Val383=
NM_001178036.3:c.1020T>G
NP_001171507.2:p.Val340=
NM_001178037.3:c.1158T>G
NP_001171508.2:p.Val386=
NM_001321905.3:c.1221T>G
NP_001308834.2:p.Val407=
NM_001321906.2:c.1149T>G
NP_001308835.2:p.Val383=
NM_001321907.3:c.1131T>G
NP_001308836.2:p.Val377=
NM_001321908.3:c.1080T>G
NP_001308837.2:p.Val360=
NM_001321909.3:c.1053T>G
NP_001308838.2:p.Val351=
NM_001321910.3:c.1020T>G
NP_001308839.2:p.Val340=
NM_001321911.3:c.1020T>G
NP_001308840.2:p.Val340=
NM_001321912.3:c.1020T>G
NP_001308841.2:p.Val340=
NM_001321913.3:c.408T>G
NP_001308842.2:p.Val136=
NM_001321914.2:c.408T>G
NP_001308843.2:p.Val136=
NM_001399849.1:c.1020T>G
NP_001386778.1:p.Val340=
NM_001399850.1:c.408T>G
NP_001386779.1:p.Val136=
NM_001399851.1:c.918T>G
NP_001386780.1:p.Val306=