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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.87508478C>T , CM000672.2:g.87508478C>T
GRCh38
NC_000010.10:g.89268235C>T , CM000672.1:g.89268235C>T
GRCh37
NC_000010.9:g.89258215C>T
NCBI36
NG_013023.1:g.9013C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371996.9:c.780C>T
MANE Select
ENSP00000361064.4:p.Asn260=
ENST00000371994.8:c.780C>T
ENSP00000361062.4:p.Asn260=
ENST00000371996.8:c.780C>T
ENSP00000361064.4:p.Asn260=
ENST00000536010.1:c.177C>T
ENSP00000437823.1:p.Asn59=
NM_001178117.1:c.780C>T
NP_001171588.1:p.Asn260=
NM_001178118.1:c.177C>T
NP_001171589.1:p.Asn59=
NM_004897.4:c.780C>T
NP_004888.2:p.Asn260=
XM_006718078.2:c.780C>T
XP_006718141.1:p.Asn260=
XM_011540379.1:c.177C>T
XP_011538681.1:p.Asn59=
XR_945884.1:n.2904C>T
XM_006718078.3:c.780C>T
XP_006718141.1:p.Asn260=
XM_011540379.3:c.177C>T
XP_011538681.1:p.Asn59=
XM_017016965.2:c.780C>T
XP_016872454.1:p.Asn260=
NM_004897.5:c.780C>T
MANE Select
NP_004888.2:p.Asn260=
NM_001178117.2:c.780C>T
NP_001171588.1:p.Asn260=
NM_001178118.2:c.177C>T
NP_001171589.1:p.Asn59=