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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.36684138T= , CM000668.2:g.36684138T=
GRCh38
NC_000006.11:g.36651915T= , CM000668.1:g.36651915T=
GRCh37
NC_000006.10:g.36759893T=
NCBI36
NG_009364.1:g.10457T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000244741.10:c.37T=
MANE Select
ENSP00000244741.6:p.Cys13=
ENST00000244741.9:c.37T=
ENSP00000244741.5:p.Cys13=
ENST00000373711.3:c.37T=
ENSP00000362815.1:p.Cys13=
ENST00000405375.5:c.37T=
ENSP00000384849.1:p.Cys13=
ENST00000448526.6:c.37T=
ENSP00000409259.3:p.Cys13=
ENST00000459970.1:n.231T=
ENST00000478800.1:n.256T=
ENST00000615513.4:c.37T=
ENSP00000482768.1:p.Cys13=
NM_000389.4:c.37T=
NP_000380.1:p.Cys13=
NM_001220777.1:c.37T=
NP_001207706.1:p.Cys13=
NM_001220778.1:c.37T=
NP_001207707.1:p.Cys13=
NM_001291549.1:c.139T=
NP_001278478.1:p.Cys47=
NM_078467.2:c.37T=
NP_510867.1:p.Cys13=
NM_000389.5:c.37T=
MANE Select
NP_000380.1:p.Cys13=
NM_001220777.2:c.37T=
NP_001207706.1:p.Cys13=
NM_001220778.2:c.37T=
NP_001207707.1:p.Cys13=
NM_001291549.3:c.139T=
NP_001278478.1:p.Cys47=
NM_001374509.1:c.139T=
NP_001361438.1:p.Cys47=
NM_001374510.1:c.76T=
NP_001361439.1:p.Cys26=
NM_001374511.1:c.37T=
NP_001361440.1:p.Cys13=
NM_001374512.1:c.37T=
NP_001361441.1:p.Cys13=
NM_001374513.1:c.37T=
NP_001361442.1:p.Cys13=
NM_078467.3:c.37T=
NP_510867.1:p.Cys13=