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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.168996712T= , CM000664.2:g.168996712T=
GRCh38
NC_000002.11:g.169853222T= , CM000664.1:g.169853222T=
GRCh37
NC_000002.10:g.169561468T=
NCBI36
NG_007374.1:g.39612A=
NG_007374.2:g.39685A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650372.1:c.400A=
MANE Select
ENSP00000497931.1:p.Ile134=
ENST00000263817.6:c.400A=
ENSP00000263817.6:p.Ile134=
NM_003742.2:c.400A=
NP_003733.2:p.Ile134=
XM_006712817.2:c.442A=
XP_006712880.1:p.Ile148=
XM_011512077.1:c.502A=
XP_011510379.1:p.Ile168=
XM_011512078.1:c.502A=
XP_011510380.1:p.Ile168=
XM_011512079.1:c.502A=
XP_011510381.1:p.Ile168=
XM_011512080.1:c.502A=
XP_011510382.1:p.Ile168=
NM_003742.4:c.400A=
MANE Select
NP_003733.2:p.Ile134=
XM_006712817.3:c.442A=
XP_006712880.1:p.Ile148=
XM_011512077.2:c.502A=
XP_011510379.1:p.Ile168=
XM_011512078.2:c.502A=
XP_011510380.1:p.Ile168=
XM_011512080.2:c.502A=
XP_011510382.1:p.Ile168=
XM_017005165.1:c.502A=
XP_016860654.1:p.Ile168=