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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.98707596T>C , CM000677.2:g.98707596T>C
GRCh38
NC_000015.9:g.99250825T>C , CM000677.1:g.99250825T>C
GRCh37
NC_000015.8:g.97068348T>C
NCBI36
NG_009492.1:g.63065T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649865.1:c.129T>C
ENSP00000496919.1:p.Tyr43=
ENST00000650285.1:c.129T>C
MANE Select
ENSP00000497069.1:p.Tyr43=
ENST00000268035.10:c.129T>C
ENSP00000268035.6:p.Tyr43=
ENST00000558762.5:c.129T>C
ENSP00000453007.1:p.Tyr43=
ENST00000559925.5:n.129T>C
NM_000875.4:c.129T>C
NP_000866.1:p.Tyr43=
NM_001291858.1:c.129T>C
NP_001278787.1:p.Tyr43=
XM_011521513.1:c.129T>C
XP_011519815.1:p.Tyr43=
XM_011521514.1:c.129T>C
XP_011519816.1:p.Tyr43=
XM_011521515.1:c.129T>C
XP_011519817.1:p.Tyr43=
XM_017022136.1:c.204T>C
XP_016877625.1:p.Tyr68=
XM_017022137.1:c.204T>C
XP_016877626.1:p.Tyr68=
XM_017022138.1:c.204T>C
XP_016877627.1:p.Tyr68=
XM_017022139.1:c.-235T>C
XP_016877628.1:n.-235T>C
NM_000875.5:c.129T>C
MANE Select
NP_000866.1:p.Tyr43=
NM_001291858.2:c.129T>C
NP_001278787.1:p.Tyr43=