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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.24477006A= , CM000680.2:g.24477006A=
GRCh38
NC_000018.9:g.22056970A= , CM000680.1:g.22056970A=
GRCh37
NC_000018.8:g.20310968A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_021624.4:c.617A=
MANE Select
NP_067637.2:p.His206=
ENST00000256906.5:c.617A=
MANE Select
ENSP00000256906.4:p.His206=
NM_001143828.1:c.353A=
NP_001137300.1:p.His118=
NM_001143828.2:c.353A=
NP_001137300.1:p.His118=
NM_001160166.1:c.*249A=
NP_001153638.1:n.*249A=
NM_001160166.2:c.*249A=
NP_001153638.1:n.*249A=
NM_021624.3:c.617A=
NP_067637.2:p.His206=
ENST00000256906.4:c.617A=
ENSP00000256906.4:p.His206=
ENST00000426880.2:c.353A=
ENSP00000402526.2:p.His118=
XM_011526133.1:c.357+8055A=
XP_011524435.1:n.357+8055A=