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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.73600420G>T , CM000668.2:g.73600420G>T
GRCh38
NC_000006.11:g.74310143G>T , CM000668.1:g.74310143G>T
GRCh37
NC_000006.10:g.74366864G>T
NCBI36
NG_008272.1:g.58595C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.1281C>A
MANE Select
ENSP00000348019.5:p.Gly427=
ENST00000355773.5:c.1281C>A
ENSP00000348019.5:p.Gly427=
NM_012434.4:c.1281C>A
NP_036566.1:p.Gly427=
XM_005248710.2:c.1230C>A
XP_005248767.1:p.Gly410=
XM_005248711.1:c.1083C>A
XP_005248768.1:p.Gly361=
XM_011535750.1:c.1133C>A
XP_011534052.1:p.Ala378Glu
NM_012434.5:c.1281C>A
MANE Select
NP_036566.1:p.Gly427=
NM_001382629.1:c.1050C>A
NP_001369558.1:p.Gly350=
NM_001382630.1:c.1260-5206C>A
NP_001369559.1:n.1260-5206C>A
NM_001382631.1:c.1302C>A
NP_001369560.1:p.Gly434=
NM_001382632.1:c.1194C>A
NP_001369561.1:p.Gly398=
NM_001382633.1:c.1281C>A
NP_001369562.1:p.Gly427=
NM_001382634.1:c.1122C>A
NP_001369563.1:p.Gly374=
NM_001382635.1:c.1278C>A
NP_001369564.1:p.Gly426=
NM_001382636.1:c.963C>A
NP_001369565.1:p.Gly321=