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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.1510224G= , CM000678.2:g.1510224G=
GRCh38
NC_000016.9:g.1560225G= , CM000678.1:g.1560225G=
GRCh37
NC_000016.8:g.1500226G=
NCBI36
NG_032783.1:g.106885C=
NG_050910.1:g.21881G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262319.11:c.*288G=
MANE Select
ENSP00000262319.6:n.*288G=
ENST00000262319.10:c.*288G=
ENSP00000262319.6:n.*288G=
ENST00000568240.1:n.1094G=
NM_016111.3:c.*288G=
NP_057195.2:n.*288G=
XM_011522773.1:c.*288G=
XP_011521075.1:n.*288G=
XM_011522774.1:c.*288G=
XP_011521076.1:n.*288G=
XM_011522775.1:c.*288G=
XP_011521077.1:n.*288G=
XM_011522776.1:c.*288G=
XP_011521078.1:n.*288G=
XR_932982.1:n.3101G=
NM_001351846.1:c.*288G=
NP_001338775.1:n.*288G=
XM_011522773.3:c.*288G=
XP_011521075.1:n.*288G=
XM_011522774.2:c.*288G=
XP_011521076.1:n.*288G=
XM_011522775.3:c.*288G=
XP_011521077.1:n.*288G=
XM_011522776.2:c.*288G=
XP_011521078.1:n.*288G=
XR_001752042.2:n.3334G=
XR_001752043.2:n.2849G=
XR_001752044.2:n.2786G=
XR_932982.3:n.2879G=
NM_016111.4:c.*288G=
MANE Select
NP_057195.2:n.*288G=
NM_001351846.2:c.*288G=
NP_001338775.1:n.*288G=