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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284129A>T , CM000666.2:g.186284129A>T
GRCh38
NC_000004.11:g.187205283A>T , CM000666.1:g.187205283A>T
GRCh37
NC_000004.10:g.187442277A>T
NCBI36
NG_008051.1:g.23166A>T , LRG_583:g.23166A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1173A>T
MANE Select
ENSP00000384957.2:p.Gly391=
ENST00000264692.8:c.1011A>T
ENSP00000264692.5:p.Gly337=
ENST00000403665.6:c.1173A>T
ENSP00000384957.2:p.Gly391=
NM_000128.3:c.1173A>T , LRG_583t1:c.1173A>T
NP_000119.1:p.Gly391=
XM_005262821.2:c.1176A>T
XP_005262878.1:p.Gly392=
XM_005262822.2:c.1176A>T
XP_005262879.1:p.Gly392=
XM_005262823.2:c.906A>T
XP_005262880.1:p.Gly302=
XM_005262824.1:c.1176A>T
XP_005262881.1:p.Gly392=
XM_006714137.1:c.1128A>T
XP_006714200.1:p.Gly376=
XR_938706.1:n.1581A>T
XR_938707.1:n.1581A>T
XM_005262821.4:c.1176A>T
XP_005262878.1:p.Gly392=
XM_005262822.4:c.1176A>T
XP_005262879.1:p.Gly392=
XM_005262823.4:c.906A>T
XP_005262880.1:p.Gly302=
XM_006714137.3:c.1128A>T
XP_006714200.1:p.Gly376=
XM_017007884.2:c.*2145A>T
XP_016863373.1:n.*2145A>T
XM_017007885.2:c.*41A>T
XP_016863374.1:n.*41A>T
XR_001741172.2:n.1647A>T
NM_000128.4:c.1173A>T
MANE Select
NP_000119.1:p.Gly391=