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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.93758138C= , CM000672.2:g.93758138C=
GRCh38
NC_000010.10:g.95517895C= , CM000672.1:g.95517895C=
GRCh37
NC_000010.9:g.95507885C=
NCBI36
NG_011832.1:g.5330C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371418.9:c.-7C=
MANE Select
ENSP00000360472.4:n.-7C=
ENST00000635953.1:c.-7C=
ENSP00000490058.1:n.-7C=
ENST00000636155.1:c.-7C=
ENSP00000490355.1:n.-7C=
ENST00000636232.1:c.-7C=
ENSP00000490325.1:n.-7C=
ENST00000636754.1:c.-7C=
ENSP00000489781.1:n.-7C=
ENST00000636946.1:c.-7C=
ENSP00000490654.1:n.-7C=
ENST00000637037.1:c.-7C=
ENSP00000490860.1:n.-7C=
ENST00000637611.1:c.-7C=
ENSP00000489682.1:n.-7C=
ENST00000637689.1:c.-1157+130C=
ENSP00000490496.1:n.-1157+130C=
ENST00000637925.1:c.-7C=
ENSP00000489763.1:n.-7C=
ENST00000638049.1:c.-7C=
ENSP00000490597.1:n.-7C=
ENST00000371418.8:c.-7C=
ENSP00000360472.4:n.-7C=
ENST00000478763.2:c.-7C=
ENSP00000486517.1:n.-7C=
ENST00000627420.2:c.-7C=
ENSP00000487116.1:n.-7C=
ENST00000627699.1:c.-7C=
ENSP00000485868.1:n.-7C=
ENST00000629035.2:c.-7C=
ENSP00000486908.1:n.-7C=
ENST00000630047.2:c.-7C=
ENSP00000485917.1:n.-7C=
ENST00000630184.2:c.-7C=
ENSP00000486607.1:n.-7C=
ENST00000630487.2:c.-7C=
ENSP00000486859.1:n.-7C=
NM_001308275.1:c.-7C=
NP_001295204.1:n.-7C=
NM_001308276.1:c.-7C=
NP_001295205.1:n.-7C=
NM_005097.2:c.-7C=
NP_005088.1:n.-7C=
NM_005097.3:c.-7C=
NP_005088.1:n.-7C=
NR_131777.1:n.330C=
XM_017016911.2:c.-7C=
XP_016872400.1:n.-7C=
XM_017016912.2:c.-7C=
XP_016872401.1:n.-7C=
NM_005097.4:c.-7C=
MANE Select
NP_005088.1:n.-7C=
NM_001308275.2:c.-7C=
NP_001295204.1:n.-7C=
NM_001308276.2:c.-7C=
NP_001295205.1:n.-7C=
NR_131777.2:n.203C=