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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.121558666T>C , CM000673.2:g.121558666T>C
GRCh38
NC_000011.9:g.121429375T>C , CM000673.1:g.121429375T>C
GRCh37
NC_000011.8:g.120934585T>C
NCBI36
NG_023313.1:g.111415T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260197.12:c.2739T>C
MANE Select
ENSP00000260197.6:p.Tyr913=
ENST00000260197.11:c.2739T>C
ENSP00000260197.6:p.Tyr913=
ENST00000524873.1:n.467T>C
ENST00000529445.1:n.445T>C
NM_003105.5:c.2739T>C
NP_003096.1:p.Tyr913=
XM_011542963.1:c.2739T>C
XP_011541265.1:p.Tyr913=
XM_011542964.1:c.2739T>C
XP_011541266.1:p.Tyr913=
XM_011542965.1:c.1200T>C
XP_011541267.1:p.Tyr400=
XM_011542966.1:c.99T>C
XP_011541268.1:p.Tyr33=
XM_011542963.3:c.2739T>C
XP_011541265.1:p.Tyr913=
XM_011542965.3:c.1200T>C
XP_011541267.1:p.Tyr400=
XM_017018169.2:c.2427T>C
XP_016873658.1:p.Tyr809=
XM_017018170.2:c.2214T>C
XP_016873659.1:p.Tyr738=
XM_017018171.1:c.2739T>C
XP_016873660.1:p.Tyr913=
XM_017018172.2:c.99T>C
XP_016873661.1:p.Tyr33=
NM_003105.6:c.2739T>C
MANE Select
NP_003096.2:p.Tyr913=