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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34517344G= , CM000671.2:g.34517344G=
GRCh38
NC_000009.11:g.34517342G= , CM000671.1:g.34517342G=
GRCh37
NC_000009.10:g.34507342G=
NCBI36
NG_008127.1:g.63532G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1878G=
MANE Select
ENSP00000242317.4:p.Ala626=
ENST00000242317.8:c.1878G=
ENSP00000242317.4:p.Ala626=
ENST00000442556.1:c.329+2605G=
ENST00000470169.5:c.666G=
ENST00000485580.1:n.454G=
ENST00000614641.4:c.1890G=
ENSP00000480538.1:p.Ala630=
NM_001281428.1:c.1890G=
NP_001268357.1:p.Ala630=
NM_012144.3:c.1878G=
NP_036276.1:p.Ala626=
XM_006716758.2:c.1347G=
XP_006716821.1:p.Ala449=
XM_011517848.1:c.1632G=
XP_011516150.1:p.Ala544=
XM_006716758.3:c.1347G=
XP_006716821.1:p.Ala449=
XM_011517848.2:c.1632G=
XP_011516150.1:p.Ala544=
XM_017014625.2:c.1620G=
XP_016870114.1:p.Ala540=
XR_002956774.1:n.1981G=
NM_012144.4:c.1878G=
MANE Select
NP_036276.1:p.Ala626=
NM_001281428.2:c.1890G=
NP_001268357.1:p.Ala630=