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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68737410C= , CM000678.2:g.68737410C=
GRCh38
NC_000016.9:g.68771313C= , CM000678.1:g.68771313C=
GRCh37
NC_000016.8:g.67328814C=
NCBI36
NG_008021.1:g.5119C= , LRG_301:g.5119C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261769.10:c.-6C=
MANE Select
ENSP00000261769.4:n.-6C=
ENST00000261769.9:c.-6C=
ENSP00000261769.4:n.-6C=
ENST00000422392.6:c.-6C=
ENSP00000414946.2:n.-6C=
ENST00000566510.5:c.-6C=
ENSP00000458139.1:n.-6C=
ENST00000566612.5:c.-6C=
ENSP00000454782.1:n.-6C=
ENST00000611625.4:c.-6C=
ENSP00000481063.1:n.-6C=
ENST00000612417.4:c.-6C=
ENSP00000478360.1:n.-6C=
ENST00000621016.4:c.-6C=
ENSP00000480664.1:n.-6C=
NM_004360.3:c.-6C= , LRG_301t1:c.-6C=
NP_004351.1:n.-6C=
NM_001317184.1:c.-6C=
NP_001304113.1:n.-6C=
NM_001317185.1:c.-1621C=
NP_001304114.1:n.-1621C=
NM_001317186.1:c.-1825C=
NP_001304115.1:n.-1825C=
NM_004360.4:c.-6C=
NP_004351.1:n.-6C=
NM_004360.5:c.-6C=
MANE Select
NP_004351.1:n.-6C=
NM_001317184.2:c.-6C=
NP_001304113.1:n.-6C=
NM_001317185.2:c.-1621C=
NP_001304114.1:n.-1621C=
NM_001317186.2:c.-1825C=
NP_001304115.1:n.-1825C=