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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.118923958A>T , CM000668.2:g.118923958A>T
GRCh38
NC_000006.11:g.119245123A>T , CM000668.1:g.119245123A>T
GRCh37
NC_000006.10:g.119286822A>T
NCBI36
NG_041822.1:g.16205T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619706.5:c.474T>A
MANE Select
ENSP00000480469.1:p.Ala158=
ENST00000316068.7:c.474T>A
ENSP00000312870.3:p.Ala158=
ENST00000316316.10:c.474T>A
ENSP00000314505.5:p.Ala158=
ENST00000436788.2:n.95T>A
ENST00000619706.4:c.474T>A
ENSP00000480469.1:p.Ala158=
NM_017696.2:c.474T>A
NP_060166.2:p.Ala158=
NM_153255.4:c.474T>A
NP_694987.1:p.Ala158=
NM_001378356.1:c.474T>A
NP_001365285.1:p.Ala158=
NM_001378357.1:c.474T>A
NP_001365286.1:p.Ala158=
NM_001378358.1:c.474T>A
NP_001365287.1:p.Ala158=
NM_001378359.1:c.474T>A
NP_001365288.1:p.Ala158=
NM_001378360.1:c.474T>A
NP_001365289.1:p.Ala158=
NM_001378361.1:c.276T>A
NP_001365290.1:p.Ala92=
NM_001378362.1:c.276T>A
NP_001365291.1:p.Ala92=
NM_001378363.1:c.276T>A
NP_001365292.1:p.Ala92=
NM_001378364.1:c.474T>A
NP_001365293.1:p.Ala158=
NM_001378365.1:c.474T>A
NP_001365294.1:p.Ala158=
NM_001378366.1:c.474T>A
NP_001365295.1:p.Ala158=
NM_001378367.1:c.276T>A
NP_001365296.1:p.Ala92=
NM_001378368.1:c.474T>A
NP_001365297.1:p.Ala158=
NM_001378369.1:c.474T>A
NP_001365298.1:p.Ala158=
NM_001378370.1:c.276T>A
NP_001365299.1:p.Ala92=
NM_001378371.1:c.474T>A
NP_001365300.1:p.Ala158=
NM_001378372.1:c.276T>A
NP_001365301.1:p.Ala92=
NM_017696.3:c.474T>A
MANE Select
NP_060166.2:p.Ala158=
NM_153255.5:c.474T>A
NP_694987.1:p.Ala158=
NR_165493.1:n.758T>A
NR_165494.1:n.892T>A