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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.1510492A= , CM000678.2:g.1510492A=
GRCh38
NC_000016.9:g.1560493A= , CM000678.1:g.1560493A=
GRCh37
NC_000016.8:g.1500494A=
NCBI36
NG_032783.1:g.106617T=
NG_050910.1:g.22149A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000426508.7:c.*452T=
MANE Select
ENSP00000406012.2:n.*452T=
ENST00000361339.9:c.*452T=
ENSP00000354895.5:n.*452T=
ENST00000397417.6:c.*3279T=
ENSP00000380562.2:n.*3279T=
ENST00000426508.6:c.*452T=
ENSP00000406012.2:n.*452T=
ENST00000565298.5:n.4665T=
NM_014714.3:c.*452T=
NP_055529.2:n.*452T=
XM_006720989.2:c.*452T=
XP_006721052.1:n.*452T=
XM_006720990.2:c.*452T=
XP_006721053.1:n.*452T=
XM_006720991.2:c.*452T=
XP_006721054.1:n.*452T=
XM_006720992.2:c.*452T=
XP_006721055.1:n.*452T=
XM_011522766.1:c.*452T=
XP_011521068.1:n.*452T=
XM_011522767.1:c.*452T=
XP_011521069.1:n.*452T=
XM_006720990.3:c.*452T=
XP_006721053.1:n.*452T=
XM_006720991.3:c.*452T=
XP_006721054.1:n.*452T=
XM_006720992.3:c.*452T=
XP_006721055.1:n.*452T=
XM_011522766.3:c.*452T=
XP_011521068.1:n.*452T=
XM_011522767.2:c.*452T=
XP_011521069.1:n.*452T=
XM_017023910.1:c.*452T=
XP_016879399.1:n.*452T=
XM_017023911.1:c.*452T=
XP_016879400.1:n.*452T=
NM_014714.4:c.*452T=
MANE Select
NP_055529.2:n.*452T=