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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.17219112G= , CM000679.2:g.17219112G=
GRCh38
NC_000017.10:g.17122426G= , CM000679.1:g.17122426G=
GRCh37
NC_000017.9:g.17063151G=
NCBI36
NG_008001.2:g.23077C= , LRG_325:g.23077C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285071.9:c.969C=
MANE Select
ENSP00000285071.4:p.Thr323=
ENST00000285071.8:c.969C=
ENSP00000285071.4:p.Thr323=
ENST00000427497.3:c.149-58C=
ENSP00000394249.3:n.149-58C=
NM_144997.5:c.969C= , LRG_325t1:c.969C=
NP_659434.2:p.Thr323=
XM_011523714.1:c.1023C=
XP_011522016.1:p.Thr341=
XM_011523715.1:c.1023C=
XP_011522017.1:p.Thr341=
XM_011523716.1:c.1023C=
XP_011522018.1:p.Thr341=
XM_011523717.1:c.1023C=
XP_011522019.1:p.Thr341=
XM_011523718.1:c.1023C=
XP_011522020.1:p.Thr341=
XM_011523719.1:c.1023C=
XP_011522021.1:p.Thr341=
XM_011523720.1:c.747C=
XP_011522022.1:p.Thr249=
XM_011523721.1:c.1023C=
XP_011522023.1:p.Thr341=
XR_934007.1:n.2363C=
NM_001353229.1:c.1023C=
NP_001340158.1:p.Thr341=
NM_001353230.1:c.969C=
NP_001340159.1:p.Thr323=
NM_001353231.1:c.969C=
NP_001340160.1:p.Thr323=
NM_144997.6:c.969C=
NP_659434.2:p.Thr323=
XM_011523714.3:c.1023C=
XP_011522016.1:p.Thr341=
XM_011523718.3:c.1023C=
XP_011522020.1:p.Thr341=
XM_011523719.3:c.1023C=
XP_011522021.1:p.Thr341=
XM_011523721.3:c.1023C=
XP_011522023.1:p.Thr341=
XM_017024305.2:c.1023C=
XP_016879794.1:p.Thr341=
XM_017024308.1:c.969C=
XP_016879797.1:p.Thr323=
XM_017024309.2:c.747C=
XP_016879798.1:p.Thr249=
XM_024450635.1:c.1023C=
XP_024306403.1:p.Thr341=
XR_001752445.2:n.1527C=
NM_144997.7:c.969C=
MANE Select
NP_659434.2:p.Thr323=
NM_001353229.2:c.1023C=
NP_001340158.1:p.Thr341=
NM_001353230.2:c.969C=
NP_001340159.1:p.Thr323=
NM_001353231.2:c.969C=
NP_001340160.1:p.Thr323=