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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.7568532C>T , CM000668.2:g.7568532C>T
GRCh38
NC_000006.11:g.7568765C>T , CM000668.1:g.7568765C>T
GRCh37
NC_000006.10:g.7513764C>T
NCBI36
NG_008803.1:g.31896C>T , LRG_423:g.31896C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000710359.1:c.1362C>T
ENSP00000518230.1:p.Asp454=
ENST00000379802.8:c.1362C>T
MANE Select
ENSP00000369129.3:p.Asp454=
ENST00000379802.7:c.1362C>T
ENSP00000369129.3:p.Asp454=
ENST00000418664.2:c.1362C>T
ENSP00000396591.2:p.Asp454=
NM_001008844.1:c.1362C>T
NP_001008844.1:p.Asp454=
NM_004415.2:c.1362C>T , LRG_423t1:c.1362C>T
NP_004406.2:p.Asp454=
XM_011514323.1:c.1362C>T
XP_011512625.1:p.Asp454=
NM_001008844.2:c.1362C>T
NP_001008844.1:p.Asp454=
NM_001319034.1:c.1362C>T
NP_001305963.1:p.Asp454=
NM_004415.3:c.1362C>T
NP_004406.2:p.Asp454=
NM_004415.4:c.1362C>T
MANE Select
NP_004406.2:p.Asp454=
NM_001008844.3:c.1362C>T
NP_001008844.1:p.Asp454=
NM_001319034.2:c.1362C>T
NP_001305963.1:p.Asp454=