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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.43197724C= , CM000670.2:g.43197724C=
GRCh38
NC_000008.10:g.43052867C= , CM000670.1:g.43052867C=
GRCh37
NC_000008.9:g.43172024C=
NCBI36
NG_009552.1:g.62276C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379644.9:c.1595C=
MANE Select
ENSP00000368965.4:p.Pro532=
ENST00000379644.8:c.1595C=
ENSP00000368965.4:p.Pro532=
ENST00000519705.1:n.911C=
ENST00000521576.1:c.746C=
ENSP00000429029.1:p.Pro249=
ENST00000523989.1:n.1908C=
NM_152419.2:c.1595C=
NP_689632.2:p.Pro532=
XM_005273409.1:c.1706C=
XP_005273466.1:p.Pro569=
XM_005273410.1:c.1682C=
XP_005273467.1:p.Pro561=
XM_005273411.1:c.1514C=
XP_005273468.1:p.Pro505=
NM_001363227.1:c.1682C=
NP_001350156.1:p.Pro561=
NM_001363228.1:c.1403C=
NP_001350157.1:p.Pro468=
NM_001363229.1:c.731C=
NP_001350158.1:p.Pro244=
NM_152419.3:c.1595C=
MANE Select
NP_689632.2:p.Pro532=
NM_001363227.2:c.1682C=
NP_001350156.1:p.Pro561=
NM_001363228.2:c.1403C=
NP_001350157.1:p.Pro468=
NM_001363229.2:c.731C=
NP_001350158.1:p.Pro244=