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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.33014140G>C , CM000665.2:g.33014140G>C
GRCh38
NC_000003.11:g.33055632G>C , CM000665.1:g.33055632G>C
GRCh37
NC_000003.10:g.33030636G>C
NCBI36
NG_009005.1:g.88063C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307363.10:c.1650C>G
MANE Select
ENSP00000306920.4:p.Ala550=
ENST00000307363.9:c.1650C>G
ENSP00000306920.4:p.Ala550=
ENST00000307377.12:c.1257C>G
ENSP00000305920.8:p.Ala419=
ENST00000399402.7:c.1560C>G
ENSP00000382333.2:p.Ala520=
ENST00000461475.5:n.749C>G
NM_000404.2:c.1650C>G
NP_000395.2:p.Ala550=
NM_000404.3:c.1650C>G
NP_000395.2:p.Ala550=
NM_001079811.1:c.1560C>G
NP_001073279.1:p.Ala520=
NM_001079811.2:c.1560C>G
NP_001073279.1:p.Ala520=
NM_001135602.1:c.1257C>G
NP_001129074.1:p.Ala419=
NM_001135602.2:c.1257C>G
NP_001129074.1:p.Ala419=
NM_001317040.1:c.1794C>G
NP_001303969.1:p.Ala598=
NM_000404.4:c.1650C>G
MANE Select
NP_000395.3:p.Ala550=
NM_001079811.3:c.1560C>G
NP_001073279.2:p.Ala520=
NM_001135602.3:c.1257C>G
NP_001129074.2:p.Ala419=
NM_001317040.2:c.1794C>G
NP_001303969.2:p.Ala598=
NM_001393580.1:c.1650C>G
NP_001380509.1:p.Ala550=