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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728178T= , CM000670.2:g.143728178T=
GRCh38
NC_000008.10:g.144810348T= , CM000670.1:g.144810348T=
GRCh37
NC_000008.9:g.144882336T=
NCBI36
NG_016652.1:g.10567A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.1283A=
MANE Select
ENSP00000373565.3:p.Gln428=
ENST00000650760.1:c.1886A=
ENSP00000499217.1:p.Gln629=
ENST00000388913.3:c.1283A=
ENSP00000373565.3:p.Gln428=
ENST00000395103.2:c.463A=
NM_198488.3:c.1283A=
NP_940890.3:p.Gln428=
XM_005250887.2:c.1340A=
XP_005250944.1:p.Gln447=
XM_005250888.2:c.1301A=
XP_005250945.1:p.Gln434=
XM_005250889.2:c.1283A=
XP_005250946.1:p.Gln428=
XM_011516980.1:c.1604A=
XP_011515282.1:p.Gln535=
XM_011516981.1:c.1451A=
XP_011515283.1:p.Gln484=
XM_005250887.3:c.1340A=
XP_005250944.1:p.Gln447=
XM_005250888.3:c.1301A=
XP_005250945.1:p.Gln434=
XM_005250889.3:c.1283A=
XP_005250946.1:p.Gln428=
XM_011516980.2:c.1886A=
XP_011515282.2:p.Gln629=
XM_011516981.2:c.1451A=
XP_011515283.1:p.Gln484=
XM_024447131.1:c.1283A=
XP_024302899.1:p.Gln428=
NM_198488.4:c.1283A=
NP_940890.3:p.Gln428=
NM_198488.5:c.1283A=
MANE Select
NP_940890.4:p.Gln428=