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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.43199511C= , CM000670.2:g.43199511C=
GRCh38
NC_000008.10:g.43054654C= , CM000670.1:g.43054654C=
GRCh37
NC_000008.9:g.43173811C=
NCBI36
NG_009552.1:g.64063C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379644.9:c.1850C=
MANE Select
ENSP00000368965.4:p.Ala617=
ENST00000379644.8:c.1850C=
ENSP00000368965.4:p.Ala617=
ENST00000519705.1:n.1166C=
ENST00000521576.1:c.1001C=
ENSP00000429029.1:p.Ala334=
NM_152419.2:c.1850C=
NP_689632.2:p.Ala617=
XM_005273409.1:c.1961C=
XP_005273466.1:p.Ala654=
XM_005273410.1:c.1937C=
XP_005273467.1:p.Ala646=
XM_005273411.1:c.1769C=
XP_005273468.1:p.Ala590=
NM_001363227.1:c.1937C=
NP_001350156.1:p.Ala646=
NM_001363228.1:c.1658C=
NP_001350157.1:p.Ala553=
NM_001363229.1:c.986C=
NP_001350158.1:p.Ala329=
NM_152419.3:c.1850C=
MANE Select
NP_689632.2:p.Ala617=
NM_001363227.2:c.1937C=
NP_001350156.1:p.Ala646=
NM_001363228.2:c.1658C=
NP_001350157.1:p.Ala553=
NM_001363229.2:c.986C=
NP_001350158.1:p.Ala329=