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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675574T>A , CM000671.2:g.97675574T>A
GRCh38
NC_000009.11:g.100437856T>A , CM000671.1:g.100437856T>A
GRCh37
NC_000009.10:g.99477677T>A
NCBI36
NG_011642.1:g.26836A>T , LRG_471:g.26836A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.687A>T
MANE Select
ENSP00000364270.5:p.Ala229=
ENST00000375128.4:c.687A>T
ENSP00000364270.4:p.Ala229=
ENST00000462523.5:c.*123A>T
ENSP00000433006.1:n.*123A>T
ENST00000485042.1:n.199A>T
NM_000380.3:c.687A>T , LRG_471t1:c.687A>T
NP_000371.1:p.Ala229=
NR_027302.1:n.1035A>T
XM_006717278.1:c.687A>T
XP_006717341.1:p.Ala229=
XM_011518988.1:c.687A>T
XP_011517290.1:p.Ala229=
XR_929839.1:n.1218A>T
NM_001354975.1:c.561A>T
NP_001341904.1:p.Ala187=
NR_149091.1:n.532A>T
NR_149092.1:n.698A>T
NR_149093.1:n.1224A>T
NR_149094.1:n.1118A>T
NM_000380.4:c.687A>T
MANE Select
NP_000371.1:p.Ala229=
NM_001354975.2:c.561A>T
NP_001341904.1:p.Ala187=
NR_027302.2:n.966A>T
NR_149091.2:n.463A>T
NR_149092.2:n.629A>T
NR_149093.2:n.1155A>T
NR_149094.2:n.1049A>T