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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.72225158C>A , CM000673.2:g.72225158C>A
GRCh38
NC_000011.9:g.71936202C>A , CM000673.1:g.71936202C>A
GRCh37
NC_000011.8:g.71613850C>A
NCBI36
NG_023253.1:g.5321C>A
NG_023253.2:g.5321C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000298229.7:c.174C>A
MANE Select
ENSP00000298229.2:p.Leu58=
ENST00000298229.6:c.174C>A
ENSP00000298229.2:p.Leu58=
ENST00000541544.1:n.90C>A
NM_001567.3:c.174C>A
NP_001558.3:p.Leu58=
XM_005273978.3:c.174C>A
XP_005274035.1:p.Leu58=
XM_005273979.3:c.174C>A
XP_005274036.1:p.Leu58=
XM_011544999.1:c.174C>A
XP_011543301.1:p.Leu58=
XM_011545000.1:c.174C>A
XP_011543302.1:p.Leu58=
XM_005273979.4:c.174C>A
XP_005274036.1:p.Leu58=
XM_011544999.2:c.174C>A
XP_011543301.1:p.Leu58=
XM_024448501.1:c.174C>A
XP_024304269.1:p.Leu58=
XM_024448502.1:c.174C>A
XP_024304270.1:p.Leu58=
XM_024448503.1:c.53C>A
XP_024304271.1:p.Ser18Tyr
XM_024448504.1:c.174C>A
XP_024304272.1:p.Leu58=
XM_024448505.1:c.174C>A
XP_024304273.1:p.Leu58=
NM_001567.4:c.174C>A
MANE Select
NP_001558.3:p.Leu58=