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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.17158878G>A , CM000678.2:g.17158878G>A
GRCh38
NC_000016.9:g.17252735G>A , CM000678.1:g.17252735G>A
GRCh37
NC_000016.8:g.17160236G>A
NCBI36
NG_015843.1:g.317004C>T
NG_015843.2:g.317004C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_022166.4:c.1321C>T
MANE Select
NP_071449.1:p.Arg441Ter
ENST00000261381.7:c.1321C>T
MANE Select
ENSP00000261381.6:p.Arg441Ter
NM_022166.3:c.1321C>T
NP_071449.1:p.Arg441Ter
ENST00000261381.6:c.1321C>T
ENSP00000261381.6:p.Arg441Ter
XM_011522574.1:c.1321C>T
XP_011520876.1:p.Arg441Ter
XM_017023539.2:c.1321C>T
XP_016879028.1:p.Arg441Ter
XM_017023540.2:c.1321C>T
XP_016879029.1:p.Arg441Ter