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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.34295401A>G , CM000682.2:g.34295401A>G
GRCh38
NC_000020.10:g.32883207A>G , CM000682.1:g.32883207A>G
GRCh37
NC_000020.9:g.32346868A>G
NCBI36
NG_012630.1:g.21402T>C
NG_012630.2:g.21402T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000217426.7:c.213T>C
MANE Select
ENSP00000217426.2:p.Gly71=
ENST00000217426.6:c.213T>C
ENSP00000217426.2:p.Gly71=
ENST00000468908.1:n.376T>C
ENST00000480653.5:n.260T>C
ENST00000538132.1:c.129T>C
ENSP00000442820.1:p.Gly43=
ENST00000606061.1:n.300T>C
NM_000687.2:c.213T>C
NP_000678.1:p.Gly71=
NM_001161766.1:c.129T>C
NP_001155238.1:p.Gly43=
XM_005260316.3:c.129T>C
XP_005260373.1:p.Gly43=
XM_005260317.1:c.129T>C
XP_005260374.1:p.Gly43=
XM_011528656.1:c.129T>C
XP_011526958.1:p.Gly43=
XM_011528657.1:c.129T>C
XP_011526959.1:p.Gly43=
XM_011528658.1:c.129T>C
XP_011526960.1:p.Gly43=
XM_011528659.1:c.129T>C
XP_011526961.1:p.Gly43=
XM_011528660.1:c.129T>C
XP_011526962.1:p.Gly43=
NM_000687.3:c.213T>C
NP_000678.1:p.Gly71=
NM_001322084.1:c.129T>C
NP_001309013.1:p.Gly43=
NM_001322085.1:c.129T>C
NP_001309014.1:p.Gly43=
NM_001322086.1:c.219T>C
NP_001309015.1:p.Gly73=
NM_001362750.1:c.213T>C
NP_001349679.1:p.Gly71=
XM_005260317.2:c.129T>C
XP_005260374.1:p.Gly43=
XM_011528656.3:c.219T>C
XP_011526958.2:p.Gly73=
XM_011528657.2:c.219T>C
XP_011526959.2:p.Gly73=
XM_011528658.3:c.219T>C
XP_011526960.2:p.Gly73=
XM_017027709.2:c.213T>C
XP_016883198.1:p.Gly71=
XM_017027710.2:c.-212T>C
XP_016883199.1:n.-212T>C
NM_000687.4:c.213T>C
MANE Select
NP_000678.1:p.Gly71=
NM_001322084.2:c.129T>C
NP_001309013.1:p.Gly43=
NM_001322085.2:c.129T>C
NP_001309014.1:p.Gly43=
NM_001322086.2:c.219T>C
NP_001309015.1:p.Gly73=
NM_001362750.2:c.213T>C
NP_001349679.1:p.Gly71=
NM_001161766.2:c.129T>C
NP_001155238.1:p.Gly43=