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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728591G>T , CM000670.2:g.143728591G>T
GRCh38
NC_000008.10:g.144810761G>T , CM000670.1:g.144810761G>T
GRCh37
NC_000008.9:g.144882749G>T
NCBI36
NG_016652.1:g.10154C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.870C>A
MANE Select
ENSP00000373565.3:p.Ala290=
ENST00000650760.1:c.1473C>A
ENSP00000499217.1:p.Ala491=
ENST00000388913.3:c.870C>A
ENSP00000373565.3:p.Ala290=
ENST00000395103.2:c.50C>A
NM_198488.3:c.870C>A
NP_940890.3:p.Ala290=
XM_005250887.2:c.927C>A
XP_005250944.1:p.Ala309=
XM_005250888.2:c.888C>A
XP_005250945.1:p.Ala296=
XM_005250889.2:c.870C>A
XP_005250946.1:p.Ala290=
XM_011516980.1:c.1191C>A
XP_011515282.1:p.Ala397=
XM_011516981.1:c.1038C>A
XP_011515283.1:p.Ala346=
XM_005250887.3:c.927C>A
XP_005250944.1:p.Ala309=
XM_005250888.3:c.888C>A
XP_005250945.1:p.Ala296=
XM_005250889.3:c.870C>A
XP_005250946.1:p.Ala290=
XM_011516980.2:c.1473C>A
XP_011515282.2:p.Ala491=
XM_011516981.2:c.1038C>A
XP_011515283.1:p.Ala346=
XM_024447131.1:c.870C>A
XP_024302899.1:p.Ala290=
NM_198488.4:c.870C>A
NP_940890.3:p.Ala290=
NM_198488.5:c.870C>A
MANE Select
NP_940890.4:p.Ala290=