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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.54042732C= , CM000685.2:g.54042732C=
GRCh38
NC_000023.10:g.54069165C= , CM000685.1:g.54069165C=
GRCh37
NC_000023.9:g.54085890C=
NCBI36
NG_021309.1:g.7405G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000686349.1:c.-4G=
ENSP00000510424.1:n.-4G=
ENST00000687764.1:c.-4G=
ENSP00000509967.1:n.-4G=
ENST00000338154.11:c.-4G=
MANE Select
ENSP00000338868.6:n.-4G=
ENST00000322659.12:c.-4G=
ENSP00000319473.8:n.-4G=
ENST00000338154.10:c.-4G=
ENSP00000338868.6:n.-4G=
ENST00000338946.10:c.-4G=
ENSP00000340051.6:n.-4G=
ENST00000357988.9:c.105G=
ENSP00000350676.5:p.Ala35=
ENST00000415025.5:c.-4G=
ENSP00000404117.1:n.-4G=
ENST00000425862.5:c.-4G=
ENSP00000408113.1:n.-4G=
ENST00000433120.5:c.-4G=
ENSP00000410100.1:n.-4G=
ENST00000437224.5:c.-4G=
ENSP00000398995.1:n.-4G=
ENST00000445025.1:c.-4G=
ENSP00000416546.1:n.-4G=
ENST00000453905.5:c.105G=
ENSP00000405897.1:p.Ala35=
NM_001184896.1:c.105G=
NP_001171825.1:p.Ala35=
NM_001184897.1:c.-4G=
NP_001171826.1:n.-4G=
NM_001184898.1:c.-4G=
NP_001171827.1:n.-4G=
NM_015107.2:c.-4G=
NP_055922.1:n.-4G=
XM_005261996.1:c.105G=
XP_005262053.1:p.Ala35=
XM_005261997.2:c.-4G=
XP_005262054.1:n.-4G=
XM_005261999.1:c.-4G=
XP_005262056.1:n.-4G=
XM_005262000.1:c.105G=
XP_005262057.1:p.Ala35=
XM_006724585.1:c.105G=
XP_006724648.1:p.Ala35=
XM_011530778.1:c.105G=
XP_011529080.1:p.Ala35=
XM_005261997.4:c.-4G=
XP_005262054.1:n.-4G=
XM_017029361.2:c.-4G=
XP_016884850.1:n.-4G=
XM_017029362.2:c.-4G=
XP_016884851.1:n.-4G=
NM_001184898.2:c.-4G=
NP_001171827.1:n.-4G=
NM_015107.3:c.-4G=
MANE Select
NP_055922.1:n.-4G=
NM_001184897.2:c.-4G=
NP_001171826.1:n.-4G=