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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219173012G>A , CM000664.2:g.219173012G>A
GRCh38
NC_000002.11:g.220037734G>A , CM000664.1:g.220037734G>A
GRCh37
NC_000002.10:g.219745978G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360507.10:c.807C>T
MANE Select
ENSP00000353698.5:p.Asp269=
ENST00000360507.9:c.807C>T
ENSP00000353698.5:p.Asp269=
ENST00000409789.5:c.807C>T
ENSP00000386277.1:p.Asp269=
ENST00000453038.5:c.807C>T
ENSP00000410109.1:p.Asp269=
NM_015680.4:c.807C>T
NP_056495.3:p.Asp269=
XM_005246462.2:c.807C>T
XP_005246519.1:p.Asp269=
XM_005246463.3:c.807C>T
XP_005246520.1:p.Asp269=
XM_006712419.1:c.807C>T
XP_006712482.1:p.Asp269=
NM_001321389.1:c.807C>T
NP_001308318.1:p.Asp269=
NM_001321390.1:c.807C>T
NP_001308319.1:p.Asp269=
NM_001321391.1:c.807C>T
NP_001308320.1:p.Asp269=
NM_015680.5:c.807C>T
NP_056495.3:p.Asp269=
NR_135628.1:n.852C>T
NR_135629.1:n.910C>T
XM_024452790.1:c.837C>T
XP_024308558.1:p.Asp279=
NM_015680.6:c.807C>T
MANE Select
NP_056495.4:p.Asp269=
NM_001321390.2:c.807C>T
NP_001308319.2:p.Asp269=
NM_001321391.2:c.807C>T
NP_001308320.2:p.Asp269=
NR_135628.2:n.835C>T
NR_135629.2:n.842C>T
NM_001321389.2:c.807C>T
NP_001308318.2:p.Asp269=