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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.7166385C= , CM000681.2:g.7166385C=
GRCh38
NC_000019.9:g.7166396C= , CM000681.1:g.7166396C=
GRCh37
NC_000019.8:g.7117396C=
NCBI36
NG_008852.2:g.132616G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302850.10:c.1630G=
MANE Select
ENSP00000303830.4:p.Glu544=
ENST00000302850.9:c.1630G=
ENSP00000303830.4:p.Glu544=
ENST00000341500.9:c.1630G=
ENSP00000342838.4:p.Glu544=
ENST00000598216.1:n.1605G=
ENST00000600492.1:c.31G=
ENSP00000473170.1:p.Glu11=
NM_000208.2:c.1630G=
NP_000199.2:p.Glu544=
NM_000208.3:c.1630G=
NP_000199.2:p.Glu544=
NM_001079817.1:c.1630G=
NP_001073285.1:p.Glu544=
NM_001079817.2:c.1630G=
NP_001073285.1:p.Glu544=
XM_011527988.1:c.1708G=
XP_011526290.1:p.Glu570=
XM_011527989.1:c.1708G=
XP_011526291.1:p.Glu570=
XM_011527988.2:c.1630G=
XP_011526290.2:p.Glu544=
XM_011527989.3:c.1630G=
XP_011526291.2:p.Glu544=
NM_000208.4:c.1630G=
MANE Select
NP_000199.2:p.Glu544=
NM_001079817.3:c.1630G=
NP_001073285.1:p.Glu544=