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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.73638413T>A , CM000668.2:g.73638413T>A
GRCh38
NC_000006.11:g.74348136T>A , CM000668.1:g.74348136T>A
GRCh37
NC_000006.10:g.74404857T>A
NCBI36
NG_008272.1:g.20602A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.612A>T
MANE Select
ENSP00000348019.5:p.Ala204=
ENST00000355773.5:c.612A>T
ENSP00000348019.5:p.Ala204=
ENST00000481996.1:n.378A>T
NM_012434.4:c.612A>T
NP_036566.1:p.Ala204=
XM_005248710.2:c.561A>T
XP_005248767.1:p.Ala187=
XM_005248711.1:c.414A>T
XP_005248768.1:p.Ala138=
XM_011535750.1:c.612A>T
XP_011534052.1:p.Ala204=
XM_011535751.1:c.612A>T
XP_011534053.1:p.Ala204=
NM_012434.5:c.612A>T
MANE Select
NP_036566.1:p.Ala204=
NM_001382629.1:c.381A>T
NP_001369558.1:p.Ala127=
NM_001382630.1:c.612A>T
NP_001369559.1:p.Ala204=
NM_001382631.1:c.633A>T
NP_001369560.1:p.Ala211=
NM_001382632.1:c.612A>T
NP_001369561.1:p.Ala204=
NM_001382633.1:c.612A>T
NP_001369562.1:p.Ala204=
NM_001382634.1:c.612A>T
NP_001369563.1:p.Ala204=
NM_001382635.1:c.612A>T
NP_001369564.1:p.Ala204=
NM_001382636.1:c.381A>T
NP_001369565.1:p.Ala127=