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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.100048878T= , CM000677.2:g.100048878T=
GRCh38
NC_000015.9:g.100589083T= , CM000677.1:g.100589083T=
GRCh37
NC_000015.8:g.98406606T=
NCBI36
NG_016287.1:g.298101A=
NG_016287.2:g.298101A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268070.9:c.2570A=
MANE Select
ENSP00000268070.4:p.Asn857=
ENST00000568565.2:c.2651A=
ENSP00000456161.2:p.Asn884=
ENST00000268070.8:c.2570A=
ENSP00000268070.4:p.Asn857=
NM_139057.2:c.2570A=
NP_620688.2:p.Asn857=
XM_005254872.2:c.2651A=
XP_005254929.1:p.Asn884=
XM_011521312.1:c.2720A=
XP_011519614.1:p.Asn907=
NM_139057.3:c.2570A=
NP_620688.2:p.Asn857=
XM_005254872.3:c.2651A=
XP_005254929.1:p.Asn884=
XM_011521312.2:c.2720A=
XP_011519614.1:p.Asn907=
XM_017021973.2:c.2852A=
XP_016877462.1:p.Asn951=
XM_017021974.1:c.2852A=
XP_016877463.1:p.Asn951=
XM_017021975.1:c.2783A=
XP_016877464.1:p.Asn928=
XM_017021976.1:c.2123A=
XP_016877465.1:p.Asn708=
XM_017021978.1:c.1754A=
XP_016877467.1:p.Asn585=
XM_017021979.1:c.1532A=
XP_016877468.1:p.Asn511=
XM_017021980.1:c.1532A=
XP_016877469.1:p.Asn511=
XM_017021982.1:c.1241A=
XP_016877471.1:p.Asn414=
XM_017021983.1:c.1025A=
XP_016877472.1:p.Asn342=
NM_139057.4:c.2570A=
MANE Select
NP_620688.2:p.Asn857=