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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.121854753T>G , CM000666.2:g.121854753T>G
GRCh38
NC_000004.11:g.122775908T>G , CM000666.1:g.122775908T>G
GRCh37
NC_000004.10:g.122995358T>G
NCBI36
NG_009111.1:g.20735A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264499.9:c.669A>C
MANE Select
ENSP00000264499.4:p.Thr223=
ENST00000264499.8:c.669A>C
ENSP00000264499.4:p.Thr223=
ENST00000506636.1:c.669A>C
ENSP00000423626.1:p.Thr223=
NM_018190.3:c.669A>C
NP_060660.2:p.Thr223=
NM_176824.2:c.669A>C
NP_789794.1:p.Thr223=
XM_005263106.2:c.672A>C
XP_005263163.1:p.Thr224=
XM_011532079.1:c.717A>C
XP_011530381.1:p.Thr239=
XM_011532080.1:c.714A>C
XP_011530382.1:p.Thr238=
XM_011532081.1:c.717A>C
XP_011530383.1:p.Thr239=
XM_005263106.4:c.672A>C
XP_005263163.1:p.Thr224=
XM_011532079.3:c.717A>C
XP_011530381.1:p.Thr239=
XM_011532080.3:c.714A>C
XP_011530382.1:p.Thr238=
XM_011532081.3:c.717A>C
XP_011530383.1:p.Thr239=
XM_017008357.2:c.669A>C
XP_016863846.1:p.Thr223=
XM_017008358.2:c.672A>C
XP_016863847.1:p.Thr224=
NM_176824.3:c.669A>C
MANE Select
NP_789794.1:p.Thr223=
NM_018190.4:c.669A>C
NP_060660.2:p.Thr223=