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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.45537967A= , CM000683.2:g.45537967A=
GRCh38
NC_000021.8:g.46957881A= , CM000683.1:g.46957881A=
GRCh37
NC_000021.7:g.45782309A=
NCBI36
NG_028278.1:g.9505T=
NG_028278.2:g.30177T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000311124.9:c.-8T=
MANE Select
ENSP00000308895.4:n.-8T=
ENST00000650808.1:c.-8T=
ENSP00000498221.1:n.-8T=
ENST00000311124.8:c.-8T=
ENSP00000308895.4:n.-8T=
ENST00000380010.8:c.-8T=
ENSP00000369347.4:n.-8T=
ENST00000427839.5:c.-8T=
ENSP00000401850.1:n.-8T=
ENST00000443742.1:c.-8T=
ENSP00000411345.1:n.-8T=
ENST00000528477.1:c.-8T=
ENSP00000435780.1:n.-8T=
ENST00000567670.5:c.-8T=
ENSP00000457278.1:n.-8T=
NM_001205206.1:c.-8T=
NP_001192135.1:n.-8T=
NM_194255.2:c.-8T=
NP_919231.1:n.-8T=
XM_005261164.2:c.-366T=
XP_005261221.1:n.-366T=
XM_011529696.1:c.284T=
XP_011527998.1:p.Leu95=
XM_011529697.1:c.284T=
XP_011527999.1:p.Leu95=
XM_011529698.1:c.59T=
XP_011528000.1:p.Leu20=
XM_011529700.1:c.-8T=
XP_011528002.1:n.-8T=
XM_011529701.1:c.-8T=
XP_011528003.1:n.-8T=
XM_011529702.1:c.-8T=
XP_011528004.1:n.-8T=
XM_011529703.1:c.-8T=
XP_011528005.1:n.-8T=
XM_011529704.1:c.-8T=
XP_011528006.1:n.-8T=
XM_011529705.1:c.284T=
XP_011528007.1:p.Leu95=
XM_011529707.1:c.284T=
XP_011528009.1:p.Leu95=
XM_011529708.1:c.-8T=
XP_011528010.1:n.-8T=
XM_011529709.1:c.-366T=
XP_011528011.1:n.-366T=
XM_011529710.1:c.-165-5819T=
XP_011528012.1:n.-165-5819T=
NM_001205206.2:c.-8T=
NP_001192135.1:n.-8T=
NM_001352510.1:c.-366T=
NP_001339439.1:n.-366T=
NM_001352511.1:c.-8T=
NP_001339440.1:n.-8T=
NM_001352512.1:c.-8T=
NP_001339441.1:n.-8T=
NM_194255.3:c.-8T=
NP_919231.1:n.-8T=
XM_011529696.2:c.284T=
XP_011527998.1:p.Leu95=
XM_011529698.2:c.59T=
XP_011528000.1:p.Leu20=
XM_011529700.2:c.-8T=
XP_011528002.1:n.-8T=
XM_011529701.2:c.-8T=
XP_011528003.1:n.-8T=
XM_011529702.2:c.-8T=
XP_011528004.1:n.-8T=
XM_011529703.2:c.-8T=
XP_011528005.1:n.-8T=
XM_011529709.2:c.-366T=
XP_011528011.1:n.-366T=
XM_017028443.1:c.197T=
XP_016883932.1:p.Leu66=
XM_017028444.1:c.284T=
XP_016883933.1:p.Leu95=
XM_017028445.2:c.284T=
XP_016883934.1:p.Leu95=
NM_194255.4:c.-8T=
MANE Select
NP_919231.1:n.-8T=
NM_001205206.3:c.-8T=
NP_001192135.1:n.-8T=
NM_001352510.2:c.-366T=
NP_001339439.1:n.-366T=
NM_001352511.2:c.-8T=
NP_001339440.1:n.-8T=
NM_001352512.2:c.-8T=
NP_001339441.1:n.-8T=
NM_001205206.4:c.-8T=
NP_001192135.1:n.-8T=
NM_001352511.3:c.-8T=
NP_001339440.1:n.-8T=