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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.92005147A>G , CM000676.2:g.92005147A>G
GRCh38
NC_000014.8:g.92471491A>G , CM000676.1:g.92471491A>G
GRCh37
NC_000014.7:g.91541244A>G
NCBI36
NG_016970.1:g.39913T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_004239.4:c.2829T>C
MANE Select
NP_004230.2:p.Phe943=
ENST00000267622.8:c.2829T>C
MANE Select
ENSP00000267622.4:p.Phe943=
NM_001321851.1:c.2826T>C
NP_001308780.1:p.Phe942=
NM_004239.3:c.2829T>C
NP_004230.2:p.Phe943=
ENST00000554357.5:c.1975T>C
XM_005268214.2:c.1503T>C
XP_005268271.1:p.Phe501=
XM_005268215.2:c.1527+2493T>C
XP_005268272.1:n.1527+2493T>C
XM_006720321.2:c.2826T>C
XP_006720384.1:p.Phe942=
XM_011537361.1:c.2829T>C
XP_011535663.1:p.Phe943=
XM_017021787.2:c.2124T>C
XP_016877276.1:p.Phe708=
XM_017021788.2:c.1503T>C
XP_016877277.1:p.Phe501=
XR_001750598.2:n.3278T>C
XR_943560.1:n.3284T>C
XR_943560.2:n.3278T>C