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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.78033899A= , CM000672.2:g.78033899A=
GRCh38
NC_000010.10:g.79793657A= , CM000672.1:g.79793657A=
GRCh37
NC_000010.9:g.79463663A=
NCBI36
NG_012633.1:g.5140A=
NG_029648.1:g.642T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360830.9:c.-3A=
ENSP00000354074.5:n.-3A=
ENST00000372360.9:c.-3A=
MANE Select
ENSP00000361435.4:n.-3A=
ENST00000440692.6:c.-3A=
ENSP00000414321.1:n.-3A=
ENST00000464716.6:c.-3A=
ENSP00000494231.1:n.-3A=
ENST00000465692.2:n.9A=
ENST00000466129.6:n.14A=
ENST00000476545.6:c.-3A=
ENSP00000494169.1:n.-3A=
ENST00000478655.6:n.37A=
ENST00000485708.7:n.37A=
ENST00000613865.5:c.-3A=
ENSP00000478869.2:n.-3A=
ENST00000645440.1:c.-3A=
ENSP00000496738.1:n.-3A=
ENST00000645698.1:n.26A=
ENST00000360830.8:c.-3A=
ENSP00000354074.4:n.-3A=
ENST00000372360.7:c.-3A=
ENSP00000361435.3:n.-3A=
ENST00000435275.5:c.-3A=
ENSP00000415549.1:n.-3A=
ENST00000440692.5:c.-3A=
ENSP00000414321.1:n.-3A=
ENST00000464716.5:n.26A=
ENST00000466129.5:n.14A=
ENST00000476545.5:n.22A=
ENST00000478655.5:n.37A=
ENST00000485708.6:n.56A=
ENST00000613865.4:c.-3A=
ENSP00000478869.1:n.-3A=
NM_001026.4:c.-3A=
NP_001017.1:n.-3A=
NM_001142282.1:c.-3A=
NP_001135754.1:n.-3A=
NM_001142283.1:c.-3A=
NP_001135755.1:n.-3A=
NM_001142284.1:c.-3A=
NP_001135756.1:n.-3A=
NM_001142285.1:c.-3A=
NP_001135757.1:n.-3A=
NM_033022.3:c.-3A=
NP_148982.1:n.-3A=
NM_001142285.2:c.-3A=
NP_001135757.1:n.-3A=
NM_033022.4:c.-3A=
MANE Select
NP_148982.1:n.-3A=
NM_001026.5:c.-3A=
NP_001017.1:n.-3A=
NM_001142282.2:c.-3A=
NP_001135754.1:n.-3A=
NM_001142283.2:c.-3A=
NP_001135755.1:n.-3A=
NM_001142284.2:c.-3A=
NP_001135756.1:n.-3A=