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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.73644466T>G , CM000668.2:g.73644466T>G
GRCh38
NC_000006.11:g.74354189T>G , CM000668.1:g.74354189T>G
GRCh37
NC_000006.10:g.74410910T>G
NCBI36
NG_008272.1:g.14549A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.232A>C
MANE Select
ENSP00000348019.5:p.Arg78=
ENST00000355773.5:c.232A>C
ENSP00000348019.5:p.Arg78=
NM_012434.4:c.232A>C
NP_036566.1:p.Arg78=
XM_005248710.2:c.181A>C
XP_005248767.1:p.Arg61=
XM_005248711.1:c.34A>C
XP_005248768.1:p.Arg12=
XM_011535750.1:c.232A>C
XP_011534052.1:p.Arg78=
XM_011535751.1:c.232A>C
XP_011534053.1:p.Arg78=
NM_012434.5:c.232A>C
MANE Select
NP_036566.1:p.Arg78=
NM_001382629.1:c.61-2542A>C
NP_001369558.1:n.61-2542A>C
NM_001382630.1:c.232A>C
NP_001369559.1:p.Arg78=
NM_001382631.1:c.253A>C
NP_001369560.1:p.Arg85=
NM_001382632.1:c.232A>C
NP_001369561.1:p.Arg78=
NM_001382633.1:c.232A>C
NP_001369562.1:p.Arg78=
NM_001382634.1:c.232A>C
NP_001369563.1:p.Arg78=
NM_001382635.1:c.232A>C
NP_001369564.1:p.Arg78=
NM_001382636.1:c.61-2542A>C
NP_001369565.1:n.61-2542A>C