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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728590G>A , CM000670.2:g.143728590G>A
GRCh38
NC_000008.10:g.144810760G>A , CM000670.1:g.144810760G>A
GRCh37
NC_000008.9:g.144882748G>A
NCBI36
NG_016652.1:g.10155C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.871C>T
MANE Select
ENSP00000373565.3:p.Leu291=
ENST00000650760.1:c.1474C>T
ENSP00000499217.1:p.Leu492=
ENST00000388913.3:c.871C>T
ENSP00000373565.3:p.Leu291=
ENST00000395103.2:c.51C>T
NM_198488.3:c.871C>T
NP_940890.3:p.Leu291=
XM_005250887.2:c.928C>T
XP_005250944.1:p.Leu310=
XM_005250888.2:c.889C>T
XP_005250945.1:p.Leu297=
XM_005250889.2:c.871C>T
XP_005250946.1:p.Leu291=
XM_011516980.1:c.1192C>T
XP_011515282.1:p.Leu398=
XM_011516981.1:c.1039C>T
XP_011515283.1:p.Leu347=
XM_005250887.3:c.928C>T
XP_005250944.1:p.Leu310=
XM_005250888.3:c.889C>T
XP_005250945.1:p.Leu297=
XM_005250889.3:c.871C>T
XP_005250946.1:p.Leu291=
XM_011516980.2:c.1474C>T
XP_011515282.2:p.Leu492=
XM_011516981.2:c.1039C>T
XP_011515283.1:p.Leu347=
XM_024447131.1:c.871C>T
XP_024302899.1:p.Leu291=
NM_198488.4:c.871C>T
NP_940890.3:p.Leu291=
NM_198488.5:c.871C>T
MANE Select
NP_940890.4:p.Leu291=