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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.21560712G= , CM000663.2:g.21560712G=
GRCh38
NC_000001.10:g.21887205G= , CM000663.1:g.21887205G=
GRCh37
NC_000001.9:g.21759792G=
NCBI36
NG_008940.1:g.56348G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374840.8:c.148G=
MANE Select
ENSP00000363973.3:p.Val50=
ENST00000374832.5:c.148G=
ENSP00000363965.1:p.Val50=
ENST00000374840.7:c.148G=
ENSP00000363973.3:p.Val50=
ENST00000468526.1:n.208G=
ENST00000539907.5:c.33G=
ENSP00000437674.1:p.Thr11=
ENST00000540617.5:c.-18G=
ENSP00000442672.1:n.-18G=
NM_000478.4:c.148G=
NP_000469.3:p.Val50=
NM_001127501.2:c.-18G=
NP_001120973.2:n.-18G=
NM_001177520.1:c.33G=
NP_001170991.1:p.Thr11=
XM_005245818.1:c.148G=
XP_005245875.1:p.Val50=
XM_005245820.2:c.148G=
XP_005245877.1:p.Val50=
XM_006710546.1:c.148G=
XP_006710609.1:p.Val50=
NM_000478.5:c.148G=
NP_000469.3:p.Val50=
NM_001127501.3:c.-18G=
NP_001120973.2:n.-18G=
NM_001177520.2:c.33G=
NP_001170991.1:p.Thr11=
XM_006710546.3:c.148G=
XP_006710609.1:p.Val50=
XM_017000903.1:c.33G=
XP_016856392.1:p.Thr11=
NM_000478.6:c.148G=
MANE Select
NP_000469.3:p.Val50=
NM_001127501.4:c.-18G=
NP_001120973.2:n.-18G=
NM_001177520.3:c.33G=
NP_001170991.1:p.Thr11=
NM_001369803.2:c.148G=
NP_001356732.1:p.Val50=
NM_001369804.2:c.148G=
NP_001356733.1:p.Val50=
NM_001369805.2:c.148G=
NP_001356734.1:p.Val50=