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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7459659C= , CM000679.2:g.7459659C=
GRCh38
NC_000017.10:g.7362978C= , CM000679.1:g.7362978C=
GRCh37
NC_000017.9:g.7303702C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000380599.9:c.*2281G=
MANE Select
ENSP00000369973.4:n.*2281G=
ENST00000311403.4:c.*2281G=
ENSP00000307858.4:n.*2281G=
ENST00000380599.8:c.*2281G=
ENSP00000369973.4:n.*2281G=
NM_001128833.1:c.*2280G=
NP_001122305.1:n.*2280G=
NM_020899.3:c.*2280G=
NP_065950.2:n.*2280G=
XM_006721563.2:c.*2281G=
XP_006721626.1:n.*2281G=
XM_006721564.1:c.*2281G=
XP_006721627.1:n.*2281G=
XM_011523972.1:c.*2281G=
XP_011522274.1:n.*2281G=
XM_006721563.3:c.*2281G=
XP_006721626.1:n.*2281G=
XM_006721564.2:c.*2281G=
XP_006721627.1:n.*2281G=
XM_011523972.2:c.*2281G=
XP_011522274.1:n.*2281G=
NM_001128833.2:c.*2281G=
MANE Select
NP_001122305.1:n.*2281G=
NM_020899.4:c.*2281G=
NP_065950.2:n.*2281G=