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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.746470C= , CM000679.2:g.746470C=
GRCh38
NC_000017.10:g.649710C= , CM000679.1:g.649710C=
GRCh37
NC_000017.9:g.596460C=
NCBI36
NG_046938.1:g.11403G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319004.6:c.1573G=
MANE Select
ENSP00000321706.5:p.Asp525=
ENST00000319004.5:c.1573G=
ENSP00000321706.5:p.Asp525=
ENST00000576778.1:c.1540G=
ENSP00000459565.1:p.Asp514=
NM_015721.2:c.1573G=
NP_056536.2:p.Asp525=
XM_005256667.3:c.1585G=
XP_005256724.1:p.Asp529=
XM_005256668.3:c.1585G=
XP_005256725.1:p.Asp529=
XM_005256670.3:c.1540G=
XP_005256727.1:p.Asp514=
XM_011523910.1:c.1585G=
XP_011522212.1:p.Asp529=
XM_011523911.1:c.1585G=
XP_011522213.1:p.Asp529=
XM_011523912.1:c.1540G=
XP_011522214.1:p.Asp514=
XM_011523913.1:c.1540G=
XP_011522215.1:p.Asp514=
XM_005256667.4:c.1585G=
XP_005256724.1:p.Asp529=
XM_005256670.5:c.1540G=
XP_005256727.1:p.Asp514=
XM_011523910.2:c.1585G=
XP_011522212.1:p.Asp529=
XM_011523911.2:c.1585G=
XP_011522213.1:p.Asp529=
XM_011523912.2:c.1540G=
XP_011522214.1:p.Asp514=
XM_011523913.2:c.1540G=
XP_011522215.1:p.Asp514=
XM_017024709.1:c.1585G=
XP_016880198.1:p.Asp529=
NM_015721.3:c.1573G=
MANE Select
NP_056536.2:p.Asp525=