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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.10618393A>G , CM000663.2:g.10618393A>G
GRCh38
NC_000001.10:g.10678450A>G , CM000663.1:g.10678450A>G
GRCh37
NC_000001.9:g.10601037A>G
NCBI36
NG_008340.1:g.148448A>G
NG_008340.2:g.148448A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_004565.3:c.360A>G
MANE Select
NP_004556.1:p.Ala120=
ENST00000356607.9:c.360A>G
MANE Select
ENSP00000349016.4:p.Ala120=
NM_004565.2:c.360A>G
NP_004556.1:p.Ala120=
ENST00000356607.8:c.360A>G
ENSP00000349016.4:p.Ala120=
ENST00000491661.2:c.345A>G
ENSP00000465473.1:p.Ala115=
XM_005263470.3:c.168A>G
XP_005263527.1:p.Ala56=
XM_005263470.5:c.168A>G
XP_005263527.1:p.Ala56=
XM_011541577.1:c.402A>G
XP_011539879.1:p.Ala134=
XM_011541577.2:c.402A>G
XP_011539879.1:p.Ala134=
XM_011541578.1:c.303A>G
XP_011539880.1:p.Ala101=
XM_011541578.2:c.303A>G
XP_011539880.1:p.Ala101=
XM_011541579.1:c.273A>G
XP_011539881.1:p.Ala91=
XM_011541579.3:c.273A>G
XP_011539881.1:p.Ala91=
XM_011541580.1:c.231A>G
XP_011539882.1:p.Ala77=
XM_024447651.1:c.168A>G
XP_024303419.1:p.Ala56=