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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.7166329G>A , CM000681.2:g.7166329G>A
GRCh38
NC_000019.9:g.7166340G>A , CM000681.1:g.7166340G>A
GRCh37
NC_000019.8:g.7117340G>A
NCBI36
NG_008852.2:g.132672C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302850.10:c.1686C>T
MANE Select
ENSP00000303830.4:p.Asp562=
ENST00000302850.9:c.1686C>T
ENSP00000303830.4:p.Asp562=
ENST00000341500.9:c.1686C>T
ENSP00000342838.4:p.Asp562=
ENST00000598216.1:n.1661C>T
ENST00000600492.1:c.87C>T
ENSP00000473170.1:p.Asp29=
NM_000208.2:c.1686C>T
NP_000199.2:p.Asp562=
NM_000208.3:c.1686C>T
NP_000199.2:p.Asp562=
NM_001079817.1:c.1686C>T
NP_001073285.1:p.Asp562=
NM_001079817.2:c.1686C>T
NP_001073285.1:p.Asp562=
XM_011527988.1:c.1764C>T
XP_011526290.1:p.Asp588=
XM_011527989.1:c.1764C>T
XP_011526291.1:p.Asp588=
XM_011527988.2:c.1686C>T
XP_011526290.2:p.Asp562=
XM_011527989.3:c.1686C>T
XP_011526291.2:p.Asp562=
NM_000208.4:c.1686C>T
MANE Select
NP_000199.2:p.Asp562=
NM_001079817.3:c.1686C>T
NP_001073285.1:p.Asp562=