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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34517305C>A , CM000671.2:g.34517305C>A
GRCh38
NC_000009.11:g.34517303C>A , CM000671.1:g.34517303C>A
GRCh37
NC_000009.10:g.34507303C>A
NCBI36
NG_008127.1:g.63493C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1839C>A
MANE Select
ENSP00000242317.4:p.Ala613=
ENST00000242317.8:c.1839C>A
ENSP00000242317.4:p.Ala613=
ENST00000442556.1:c.329+2566C>A
ENST00000470169.5:c.627C>A
ENST00000485580.1:n.415C>A
ENST00000614641.4:c.1851C>A
ENSP00000480538.1:p.Ala617=
NM_001281428.1:c.1851C>A
NP_001268357.1:p.Ala617=
NM_012144.3:c.1839C>A
NP_036276.1:p.Ala613=
XM_006716758.2:c.1308C>A
XP_006716821.1:p.Ala436=
XM_011517848.1:c.1593C>A
XP_011516150.1:p.Ala531=
XM_006716758.3:c.1308C>A
XP_006716821.1:p.Ala436=
XM_011517848.2:c.1593C>A
XP_011516150.1:p.Ala531=
XM_017014625.2:c.1581C>A
XP_016870114.1:p.Ala527=
XR_002956774.1:n.1942C>A
NM_012144.4:c.1839C>A
MANE Select
NP_036276.1:p.Ala613=
NM_001281428.2:c.1851C>A
NP_001268357.1:p.Ala617=