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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.8122032C= , CM000679.2:g.8122032C=
GRCh38
NC_000017.10:g.8025350C= , CM000679.1:g.8025350C=
GRCh37
NC_000017.9:g.7966075C=
NCBI36
NG_015807.1:g.1885G=
NG_015816.1:g.7061G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.232G=
MANE Select
ENSP00000446205.2:p.Ala78=
ENST00000317814.8:c.227-10G=
ENSP00000314774.4:n.227-10G=
ENST00000541682.6:c.232G=
ENSP00000446205.2:p.Ala78=
ENST00000577735.1:c.208G=
ENSP00000462491.1:p.Ala70=
NM_001165967.1:c.232G=
NP_001159439.1:p.Ala78=
NM_032580.3:c.227-10G=
NP_115969.2:n.227-10G=
XM_011524038.1:c.337G=
XP_011522340.1:p.Ala113=
XM_011524039.1:c.328G=
XP_011522341.1:p.Ala110=
XM_011524040.1:c.328G=
XP_011522342.1:p.Ala110=
XM_011524041.1:c.319G=
XP_011522343.1:p.Ala107=
XM_011524042.1:c.190G=
XP_011522344.1:p.Ala64=
XR_934203.1:n.69+2218C=
XM_017025232.1:c.337G=
XP_016880721.1:p.Ala113=
XM_024451007.1:c.337G=
XP_024306775.1:p.Ala113=
NM_001165967.2:c.232G=
MANE Select
NP_001159439.1:p.Ala78=
NM_032580.4:c.227-10G=
NP_115969.2:n.227-10G=