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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.43192307T>C , CM000670.2:g.43192307T>C
GRCh38
NC_000008.10:g.43047450T>C , CM000670.1:g.43047450T>C
GRCh37
NC_000008.9:g.43166607T>C
NCBI36
NG_009552.1:g.56859T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379644.9:c.1254T>C
MANE Select
ENSP00000368965.4:p.Gly418=
ENST00000379644.8:c.1254T>C
ENSP00000368965.4:p.Gly418=
ENST00000520678.1:n.187T>C
ENST00000521576.1:c.405T>C
ENSP00000429029.1:p.Gly135=
ENST00000524016.5:c.358T>C
NM_152419.2:c.1254T>C
NP_689632.2:p.Gly418=
XM_005273409.1:c.1254T>C
XP_005273466.1:p.Gly418=
XM_005273410.1:c.1254T>C
XP_005273467.1:p.Gly418=
XM_005273411.1:c.1062T>C
XP_005273468.1:p.Gly354=
XM_005273412.2:c.1254T>C
XP_005273469.1:p.Gly418=
NM_001363227.1:c.1254T>C
NP_001350156.1:p.Gly418=
NM_001363228.1:c.1062T>C
NP_001350157.1:p.Gly354=
NM_001363229.1:c.390T>C
NP_001350158.1:p.Gly130=
XM_005273412.4:c.1254T>C
XP_005273469.1:p.Gly418=
NM_152419.3:c.1254T>C
MANE Select
NP_689632.2:p.Gly418=
NM_001363227.2:c.1254T>C
NP_001350156.1:p.Gly418=
NM_001363228.2:c.1062T>C
NP_001350157.1:p.Gly354=
NM_001363229.2:c.390T>C
NP_001350158.1:p.Gly130=