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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.134371043T= , CM000667.2:g.134371043T=
GRCh38
NC_000005.9:g.133706734T= , CM000667.1:g.133706734T=
GRCh37
NC_000005.8:g.133734633T=
NCBI36
NG_042179.2:g.5005A=
NG_046936.1:g.4868T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000518409.2:n.2A=
ENST00000520515.5:n.1A=
ENST00000703312.1:n.1A=
ENST00000703313.1:c.-74A=
ENSP00000515258.1:n.-74A=
ENST00000519312.5:c.-74A=
ENSP00000427738.1:n.-74A=
ENST00000522501.1:n.1A=
NM_001300853.1:c.-448A=
NP_001287782.1:n.-448A=
XM_011543437.1:c.-448A=
XP_011541739.1:n.-448A=
XM_011543438.1:c.-269A=
XP_011541740.1:n.-269A=
XM_011543439.1:c.-74A=
XP_011541741.1:n.-74A=
XM_011543441.1:c.-224+355A=
XP_011541743.1:n.-224+355A=
XM_011543444.1:c.-303A=
XP_011541746.1:n.-303A=
XM_011543445.1:c.-252A=
XP_011541747.1:n.-252A=
XM_011543447.1:c.-163A=
XP_011541749.1:n.-163A=
NM_001349363.1:c.-74A=
NP_001336292.1:n.-74A=
NM_001349364.1:c.-303A=
NP_001336293.1:n.-303A=
NM_001349365.1:c.-252A=
NP_001336294.1:n.-252A=
NM_001349366.1:c.-163A=
NP_001336295.1:n.-163A=
XM_017009544.2:c.-677A=
XP_016865033.1:n.-677A=
XM_017009545.2:c.-482A=
XP_016865034.1:n.-482A=
XM_024446086.1:c.-67A=
XP_024301854.1:n.-67A=
XM_024446093.1:c.227+355A=
XP_024301861.1:n.227+355A=
XM_024446096.1:c.-448A=
XP_024301864.1:n.-448A=
XM_024446097.1:c.-469A=
XP_024301865.1:n.-469A=
XM_024446099.1:c.-439+355A=
XP_024301867.1:n.-439+355A=
XM_024446100.1:c.-269A=
XP_024301868.1:n.-269A=
XM_024446101.1:c.-59A=
XP_024301869.1:n.-59A=
XM_024446103.1:c.-269A=
XP_024301871.1:n.-269A=
NM_001300853.2:c.-448A=
NP_001287782.1:n.-448A=
NM_001349363.2:c.-74A=
NP_001336292.1:n.-74A=
NM_001349364.2:c.-303A=
NP_001336293.1:n.-303A=
NM_001349365.2:c.-252A=
NP_001336294.1:n.-252A=
NM_001349366.2:c.-163A=
NP_001336295.1:n.-163A=