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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.121558822C>G , CM000673.2:g.121558822C>G
GRCh38
NC_000011.9:g.121429531C>G , CM000673.1:g.121429531C>G
GRCh37
NC_000011.8:g.120934741C>G
NCBI36
NG_023313.1:g.111571C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260197.12:c.2895C>G
MANE Select
ENSP00000260197.6:p.Ala965=
ENST00000260197.11:c.2895C>G
ENSP00000260197.6:p.Ala965=
ENST00000529445.1:n.601C>G
NM_003105.5:c.2895C>G
NP_003096.1:p.Ala965=
XM_011542963.1:c.2895C>G
XP_011541265.1:p.Ala965=
XM_011542964.1:c.2895C>G
XP_011541266.1:p.Ala965=
XM_011542965.1:c.1356C>G
XP_011541267.1:p.Ala452=
XM_011542966.1:c.255C>G
XP_011541268.1:p.Ala85=
XM_011542963.3:c.2895C>G
XP_011541265.1:p.Ala965=
XM_011542965.3:c.1356C>G
XP_011541267.1:p.Ala452=
XM_017018169.2:c.2583C>G
XP_016873658.1:p.Ala861=
XM_017018170.2:c.2370C>G
XP_016873659.1:p.Ala790=
XM_017018171.1:c.2895C>G
XP_016873660.1:p.Ala965=
XM_017018172.2:c.255C>G
XP_016873661.1:p.Ala85=
NM_003105.6:c.2895C>G
MANE Select
NP_003096.2:p.Ala965=