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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.45000330C= , CM000669.2:g.45000330C=
GRCh38
NC_000007.13:g.45039929C= , CM000669.1:g.45039929C=
GRCh37
NC_000007.12:g.45006454C=
NCBI36
NG_016295.1:g.5143C= , LRG_664:g.5143C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000258781.11:c.-4C=
MANE Select
ENSP00000258781.7:n.-4C=
ENST00000648329.1:c.-4C=
ENSP00000496916.1:n.-4C=
ENST00000258781.10:c.-4C=
ENSP00000258781.6:n.-4C=
ENST00000461377.5:n.383+473C=
ENST00000478582.5:n.142C=
ENST00000488727.5:c.-4C=
ENSP00000417251.1:n.-4C=
ENST00000541586.5:c.-4C=
ENSP00000444725.1:n.-4C=
ENST00000544363.5:c.-4C=
ENSP00000438035.1:n.-4C=
NM_001167934.1:c.-4C=
NP_001161406.1:n.-4C=
NM_001167935.1:c.-4C=
NP_001161407.1:n.-4C=
NM_031443.3:c.-4C= , LRG_664t2:c.-4C=
NP_113631.1:n.-4C=
NR_030770.1:n.112+473C=
XM_011515562.1:c.-4C=
XP_011513864.1:n.-4C=
XM_011515564.1:c.-4C=
XP_011513866.1:n.-4C=
NM_001363458.1:c.-4C=
NP_001350387.1:n.-4C=
NM_001363459.1:c.-4C=
NP_001350388.1:n.-4C=
XM_017012673.1:c.-4C=
XP_016868162.1:n.-4C=
NM_001363458.2:c.-4C=
NP_001350387.1:n.-4C=
NM_001363459.2:c.-4C=
NP_001350388.1:n.-4C=
NM_031443.4:c.-4C=
MANE Select
NP_113631.1:n.-4C=
NR_030770.2:n.112+473C=
NM_001167934.2:c.-4C=
NP_001161406.1:n.-4C=
NM_001167935.2:c.-4C=
NP_001161407.1:n.-4C=