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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728396G>C , CM000670.2:g.143728396G>C
GRCh38
NC_000008.10:g.144810566G>C , CM000670.1:g.144810566G>C
GRCh37
NC_000008.9:g.144882554G>C
NCBI36
NG_016652.1:g.10349C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.1065C>G
MANE Select
ENSP00000373565.3:p.Arg355=
ENST00000650760.1:c.1668C>G
ENSP00000499217.1:p.Arg556=
ENST00000388913.3:c.1065C>G
ENSP00000373565.3:p.Arg355=
ENST00000395103.2:c.245C>G
NM_198488.3:c.1065C>G
NP_940890.3:p.Arg355=
XM_005250887.2:c.1122C>G
XP_005250944.1:p.Arg374=
XM_005250888.2:c.1083C>G
XP_005250945.1:p.Arg361=
XM_005250889.2:c.1065C>G
XP_005250946.1:p.Arg355=
XM_011516980.1:c.1386C>G
XP_011515282.1:p.Arg462=
XM_011516981.1:c.1233C>G
XP_011515283.1:p.Arg411=
XM_005250887.3:c.1122C>G
XP_005250944.1:p.Arg374=
XM_005250888.3:c.1083C>G
XP_005250945.1:p.Arg361=
XM_005250889.3:c.1065C>G
XP_005250946.1:p.Arg355=
XM_011516980.2:c.1668C>G
XP_011515282.2:p.Arg556=
XM_011516981.2:c.1233C>G
XP_011515283.1:p.Arg411=
XM_024447131.1:c.1065C>G
XP_024302899.1:p.Arg355=
NM_198488.4:c.1065C>G
NP_940890.3:p.Arg355=
NM_198488.5:c.1065C>G
MANE Select
NP_940890.4:p.Arg355=