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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.121558619C= , CM000673.2:g.121558619C=
GRCh38
NC_000011.9:g.121429328C= , CM000673.1:g.121429328C=
GRCh37
NC_000011.8:g.120934538C=
NCBI36
NG_023313.1:g.111368C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260197.12:c.2692C=
MANE Select
ENSP00000260197.6:p.Leu898=
ENST00000260197.11:c.2692C=
ENSP00000260197.6:p.Leu898=
ENST00000524873.1:n.420C=
ENST00000529445.1:n.398C=
NM_003105.5:c.2692C=
NP_003096.1:p.Leu898=
XM_011542963.1:c.2692C=
XP_011541265.1:p.Leu898=
XM_011542964.1:c.2692C=
XP_011541266.1:p.Leu898=
XM_011542965.1:c.1153C=
XP_011541267.1:p.Leu385=
XM_011542966.1:c.52C=
XP_011541268.1:p.Leu18=
XM_011542963.3:c.2692C=
XP_011541265.1:p.Leu898=
XM_011542965.3:c.1153C=
XP_011541267.1:p.Leu385=
XM_017018169.2:c.2380C=
XP_016873658.1:p.Leu794=
XM_017018170.2:c.2167C=
XP_016873659.1:p.Leu723=
XM_017018171.1:c.2692C=
XP_016873660.1:p.Leu898=
XM_017018172.2:c.52C=
XP_016873661.1:p.Leu18=
NM_003105.6:c.2692C=
MANE Select
NP_003096.2:p.Leu898=