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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.132330409T= , CM000671.2:g.132330409T=
GRCh38
NC_000009.11:g.135205796T= , CM000671.1:g.135205796T=
GRCh37
NC_000009.10:g.134195617T=
NCBI36
NG_007946.1:g.29577A= , LRG_268:g.29577A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000224140.6:c.1189A=
MANE Select
ENSP00000224140.5:p.Ile397=
ENST00000224140.5:c.1189A=
ENSP00000224140.5:p.Ile397=
NM_015046.5:c.1189A= , LRG_268t1:c.1189A=
NP_055861.3:p.Ile397=
XM_005272171.1:c.1189A=
XP_005272228.1:p.Ile397=
XM_005272172.1:c.1189A=
XP_005272229.1:p.Ile397=
XM_005272173.1:c.1189A=
XP_005272230.1:p.Ile397=
XM_011518404.1:c.1189A=
XP_011516706.1:p.Ile397=
XM_011518405.1:c.1189A=
XP_011516707.1:p.Ile397=
XM_011518406.1:c.1189A=
XP_011516708.1:p.Ile397=
XM_011518407.1:c.1189A=
XP_011516709.1:p.Ile397=
XM_011518408.1:c.1189A=
XP_011516710.1:p.Ile397=
XR_929739.1:n.1373A=
NM_001351527.1:c.1189A=
NP_001338456.1:p.Ile397=
NM_001351528.1:c.1189A=
NP_001338457.1:p.Ile397=
NM_015046.6:c.1189A=
NP_055861.3:p.Ile397=
XM_005272172.3:c.1189A=
XP_005272229.1:p.Ile397=
XM_005272173.3:c.1189A=
XP_005272230.1:p.Ile397=
XM_011518404.3:c.1189A=
XP_011516706.1:p.Ile397=
XM_011518405.3:c.1189A=
XP_011516707.1:p.Ile397=
XM_011518406.2:c.1189A=
XP_011516708.1:p.Ile397=
XM_011518408.3:c.1189A=
XP_011516710.1:p.Ile397=
XR_001746251.1:n.1373A=
XR_929739.2:n.1373A=
NM_015046.7:c.1189A=
MANE Select
NP_055861.3:p.Ile397=
NM_001351528.2:c.1189A=
NP_001338457.1:p.Ile397=
NM_001351527.2:c.1189A=
NP_001338456.1:p.Ile397=