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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.150073366C= , CM000667.2:g.150073366C=
GRCh38
NC_000005.9:g.149452929C= , CM000667.1:g.149452929C=
GRCh37
NC_000005.8:g.149433122C=
NCBI36
NG_012303.1:g.45007G=
NG_012303.2:g.45007G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000675795.1:c.1017G=
MANE Select
ENSP00000501699.1:p.Leu339=
ENST00000286301.7:c.1017G=
ENSP00000286301.3:p.Leu339=
ENST00000504875.5:c.1017G=
ENSP00000422212.1:p.Leu339=
ENST00000543093.1:c.890-2795G=
ENSP00000445282.1:n.890-2795G=
NM_001288705.1:c.1017G=
NP_001275634.1:p.Leu339=
NM_005211.3:c.1017G=
NP_005202.2:p.Leu339=
NR_109969.1:n.1230G=
NM_001288705.2:c.1017G=
NP_001275634.1:p.Leu339=
NM_001349736.1:c.1017G=
NP_001336665.1:p.Leu339=
NM_001288705.3:c.1017G=
MANE Select
NP_001275634.1:p.Leu339=
NM_001375320.1:c.1017G=
NP_001362249.1:p.Leu339=
NM_001375321.1:c.573G=
NP_001362250.1:p.Leu191=
NR_164679.1:n.1073G=
NM_001349736.2:c.1017G=
NP_001336665.1:p.Leu339=
NM_005211.4:c.1017G=
NP_005202.2:p.Leu339=
NR_109969.2:n.1144G=