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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.34294082C>A , CM000682.2:g.34294082C>A
GRCh38
NC_000020.10:g.32881888C>A , CM000682.1:g.32881888C>A
GRCh37
NC_000020.9:g.32345549C>A
NCBI36
NG_012630.1:g.22721G>T
NG_012630.2:g.22721G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000217426.7:c.294G>T
MANE Select
ENSP00000217426.2:p.Pro98=
ENST00000217426.6:c.294G>T
ENSP00000217426.2:p.Pro98=
ENST00000468908.1:n.457G>T
ENST00000480653.5:n.341G>T
ENST00000538132.1:c.210G>T
ENSP00000442820.1:p.Pro70=
ENST00000606061.1:n.554G>T
NM_000687.2:c.294G>T
NP_000678.1:p.Pro98=
NM_001161766.1:c.210G>T
NP_001155238.1:p.Pro70=
XM_005260316.3:c.210G>T
XP_005260373.1:p.Pro70=
XM_005260317.1:c.210G>T
XP_005260374.1:p.Pro70=
XM_011528656.1:c.210G>T
XP_011526958.1:p.Pro70=
XM_011528657.1:c.210G>T
XP_011526959.1:p.Pro70=
XM_011528658.1:c.210G>T
XP_011526960.1:p.Pro70=
XM_011528659.1:c.210G>T
XP_011526961.1:p.Pro70=
XM_011528660.1:c.210G>T
XP_011526962.1:p.Pro70=
NM_000687.3:c.294G>T
NP_000678.1:p.Pro98=
NM_001322084.1:c.210G>T
NP_001309013.1:p.Pro70=
NM_001322085.1:c.210G>T
NP_001309014.1:p.Pro70=
NM_001322086.1:c.300G>T
NP_001309015.1:p.Pro100=
NM_001362750.1:c.294G>T
NP_001349679.1:p.Pro98=
XM_005260317.2:c.210G>T
XP_005260374.1:p.Pro70=
XM_011528656.3:c.300G>T
XP_011526958.2:p.Pro100=
XM_011528657.2:c.300G>T
XP_011526959.2:p.Pro100=
XM_011528658.3:c.300G>T
XP_011526960.2:p.Pro100=
XM_017027709.2:c.294G>T
XP_016883198.1:p.Pro98=
XM_017027710.2:c.-131G>T
XP_016883199.1:n.-131G>T
NM_000687.4:c.294G>T
MANE Select
NP_000678.1:p.Pro98=
NM_001322084.2:c.210G>T
NP_001309013.1:p.Pro70=
NM_001322085.2:c.210G>T
NP_001309014.1:p.Pro70=
NM_001322086.2:c.300G>T
NP_001309015.1:p.Pro100=
NM_001362750.2:c.294G>T
NP_001349679.1:p.Pro98=
NM_001161766.2:c.210G>T
NP_001155238.1:p.Pro70=