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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31616119T= , CM000668.2:g.31616119T=
GRCh38
NC_000006.11:g.31583896T= , CM000668.1:g.31583896T=
GRCh37
NC_000006.10:g.31691875T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376059.8:c.170T=
MANE Select
ENSP00000365227.3:p.Phe57=
ENST00000337917.11:c.212T=
ENSP00000338776.7:p.Phe71=
ENST00000376049.4:c.8T=
ENSP00000365217.4:p.Phe3=
ENST00000376059.7:c.170T=
ENSP00000365227.3:p.Phe57=
ENST00000466820.1:n.587T=
ENST00000497362.5:n.589T=
NM_001623.3:c.170T=
NP_001614.3:p.Phe57=
NM_004847.3:c.8T=
NP_004838.1:p.Phe3=
NM_032955.1:c.8T=
NP_116573.1:p.Phe3=
XM_005248870.3:c.170T=
XP_005248927.1:p.Phe57=
XM_005248871.1:c.233T=
XP_005248928.1:p.Phe78=
NM_001318970.1:c.8T=
NP_001305899.1:p.Phe3=
NM_001623.4:c.170T=
NP_001614.3:p.Phe57=
NM_032955.2:c.8T=
NP_116573.1:p.Phe3=
XM_005248870.4:c.170T=
XP_005248927.1:p.Phe57=
XM_017010332.1:c.8T=
XP_016865821.1:p.Phe3=
NM_001623.5:c.170T=
MANE Select
NP_001614.3:p.Phe57=
NM_001318970.2:c.8T=
NP_001305899.1:p.Phe3=
NM_032955.3:c.8T=
NP_116573.1:p.Phe3=