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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91725078C>T , CM000671.2:g.91725078C>T
GRCh38
NC_000009.11:g.94487360C>T , CM000671.1:g.94487360C>T
GRCh37
NC_000009.10:g.93527181C>T
NCBI36
NG_008089.1:g.230085G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_004560.4:c.1416G>A
MANE Select
NP_004551.2:p.Ala472=
ENST00000375708.4:c.1416G>A
MANE Select
ENSP00000364860.3:p.Ala472=
NM_004560.3:c.1416G>A
NP_004551.2:p.Ala472=
ENST00000375708.3:c.1416G>A
ENSP00000364860.3:p.Ala472=
ENST00000375715.5:c.996G>A
ENSP00000364867.1:p.Ala332=
ENST00000550066.5:n.1884G>A
XM_005252008.3:c.996G>A
XP_005252065.1:p.Ala332=
XM_005252008.4:c.996G>A
XP_005252065.1:p.Ala332=
XM_005252009.3:c.213G>A
XP_005252066.1:p.Ala71=
XM_006717121.2:c.996G>A
XP_006717184.1:p.Ala332=
XM_006717121.3:c.996G>A
XP_006717184.1:p.Ala332=
XM_011518721.1:c.996G>A
XP_011517023.1:p.Ala332=
XM_017014762.1:c.1407G>A
XP_016870251.1:p.Ala469=
XM_017014763.1:c.996G>A
XP_016870252.1:p.Ala332=
XR_001746315.1:n.1625G>A