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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.46265982C= , CM000683.2:g.46265982C=
GRCh38
NC_000021.8:g.47685896C= , CM000683.1:g.47685896C=
GRCh37
NC_000021.7:g.46510324C=
NCBI36
NG_033881.1:g.24341G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000291688.6:c.2974G=
MANE Select
ENSP00000291688.1:p.Glu992=
ENST00000291688.5:c.2974G=
ENSP00000291688.1:p.Glu992=
ENST00000397708.1:c.2974G=
ENSP00000380820.1:p.Glu992=
ENST00000486937.5:n.1266G=
ENST00000496607.5:n.971G=
NM_003906.4:c.2974G=
NP_003897.2:p.Glu992=
XM_005261203.3:c.2974G=
XP_005261260.1:p.Glu992=
XM_005261204.3:c.2974G=
XP_005261261.1:p.Glu992=
XM_005261205.2:c.2974G=
XP_005261262.1:p.Glu992=
XM_005261206.3:c.2974G=
XP_005261263.1:p.Glu992=
XM_006724064.2:c.2974G=
XP_006724127.1:p.Glu992=
XR_937577.1:n.3563G=
XM_005261203.4:c.2974G=
XP_005261260.1:p.Glu992=
XM_005261204.5:c.2974G=
XP_005261261.1:p.Glu992=
XM_005261205.4:c.2974G=
XP_005261262.1:p.Glu992=
NM_003906.5:c.2974G=
MANE Select
NP_003897.2:p.Glu992=