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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.144517452G= , CM000670.2:g.144517452G=
GRCh38
NC_000008.10:g.145742836G= , CM000670.1:g.145742836G=
GRCh37
NC_000008.9:g.145713644G=
NCBI36
NG_016430.1:g.5375C=
NG_033083.1:g.4488G=
NG_016430.2:g.5375C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000617875.6:c.175C=
MANE Select
ENSP00000482313.2:p.Leu59=
ENST00000524998.1:c.48C=
ENST00000534270.1:n.121C=
ENST00000534538.1:c.129C=
ENST00000617875.4:c.175C=
ENSP00000482313.1:p.Leu59=
ENST00000621189.4:c.-897C=
ENSP00000483145.1:n.-897C=
NM_004260.3:c.175C=
NP_004251.3:p.Leu59=
XM_011517380.1:c.175C=
XP_011515682.1:p.Leu59=
XM_011517381.1:c.175C=
XP_011515683.1:p.Leu59=
XM_011517382.1:c.175C=
XP_011515684.1:p.Leu59=
XM_011517383.1:c.175C=
XP_011515685.1:p.Leu59=
XM_011517384.1:c.175C=
XP_011515686.1:p.Leu59=
XR_928366.1:n.216C=
XR_928367.1:n.216C=
XR_928368.1:n.218C=
XM_011517384.3:c.175C=
XP_011515686.1:p.Leu59=
XM_017013991.2:c.175C=
XP_016869480.1:p.Leu59=
XM_017013992.2:c.175C=
XP_016869481.1:p.Leu59=
XM_017013993.2:c.175C=
XP_016869482.1:p.Leu59=
XM_017013994.2:c.175C=
XP_016869483.1:p.Leu59=
XM_017013995.2:c.175C=
XP_016869484.1:p.Leu59=
XM_017013996.2:c.175C=
XP_016869485.1:p.Leu59=
XM_017013997.2:c.175C=
XP_016869486.1:p.Leu59=
XM_017013998.1:c.175C=
XP_016869487.1:p.Leu59=
XM_017013999.2:c.175C=
XP_016869488.1:p.Leu59=
XM_017014001.2:c.-959C=
XP_016869490.1:n.-959C=
XR_001745626.2:n.212C=
XR_001745627.2:n.212C=
XR_001745628.2:n.212C=
XR_001745629.2:n.212C=
XR_001745630.2:n.212C=
NM_004260.4:c.175C=
MANE Select
NP_004251.4:p.Leu59=